Paediatrics (Ben) Flashcards
What is the definition of an Atrial Septal Defect?
An atrial septal defect (ASD) is a cardiac malformation where a hole exists between the left and right atria.
This is due to a defect in the septum secundum during cardiac embryonic development.
What is the epidemiology of Atrial Septal Defects?
More prevalent in females compared to males
What are the 2 walls that separate the left and right atria called?
Septum primum and Septum secondum.
What is the foramen ovale?
It is a hole in the Septum Secondum that usually closes at birth.
What is the pathophysiology of an atrial septal defect?
Atrial septal defects arise due to defects in the development of the septum primum and secondum (as well as the foramen ovale)
An atrial septal defect leads to a shunt, with blood moving between the two atria. Blood moves from the left atrium to the right atrium because the pressure in the left atrium is higher than the pressure in the right atrium.
This means blood continues to flow to the pulmonary vessels and lungs to get oxygenated and the patient does not become cyanotic, however the increased flow to the right side of the heart leads to right sided overload and right heart strain. This right sided overload can lead to right heart failure and pulmonary hypertension.
However pulmonary hypertension can cause the pulmoary pressure to exceed the systemic pressure resulting in the shunt reversing and forming a right to left shunt across the ASD. This causes to blood bypass the lungs and the patient becomes cyanotic (Eisenmenger Syndrome)
What are the 3 types of atrial septal defect?
-
Ostium secondum
The septum secondum fails to fully close -
Patent foramen ovale
The foramen ovale fails to close (although this not strictly classified as an ASD). -
Ostium primum
The septum primum fails to fully close, leaving a hole in the wall. This tends to lead to atrioventricular valve defects making it an atrioventricular septal defect.
What are the clinical features of an atrial septal defect?
- Mid-systolic, crescendo-decrescendo murmur loudest at the upper left sternal border with a fixed split second heart sound.
- Its often asymptomatic but can present with:
- Shortness of breath
- Difficulty feeding
- Poor weight gain
- Lower respiratory tract infections
ASD are more likely to be asymptomatic compared to VSDs, even if larger.
If an atrial septal defect is asymptomatic in childhood, what may it present with in adulthood?
Dyspnoea
Heart failure
Stroke
What factors can increase the risk of an Atrial septal defect developing?
Both genetic and environmental factors can play a role e.g.
- Maternal alcohol consumption
- Rubella infection during pregnancy
- Maternal diabetes,
What are some differentials for an atrial septal defect?
Ventricular septal defect
Characterised by a loud holosystolic murmur at the left lower sternal border, possible cyanosis, and potentially failure to thrive in infants.
Patent ductus arteriosus
Noted by a continuous “machinery” murmur, wide pulse pressure, and bounding pulses.
Pulmonic stenosis
Presents with a systolic murmur at the left upper sternal border, and there may be cyanosis with severe stenosis.
What is the diagnostic investigation for an atrial septal defect?
Transthoracic Echocardiogram - Revealing abnormal blood flow between the atria
What other investigations can be done for an atrial septal defect?
ECG
Chest XRay
Cardiac MRI
What is the management of atrial septal defects?
If ASD is small and asymptomatic then watching and waiting.
If the ASD is more severe then surgical correction may be necessary:
- Transvenous catheter closure (via the femoral vein) or
- Open heart surgery
In adults; anticoagulants (like aspirin, warfarin and NOACs) are used to reduce the risk of clots and strokes.
What is the definition of a Ventricular Septal Defect?
A ventricular septal defect is a congenital cardiac defect where there is a hole in the septum that separates the right and left ventricle.
What is the epidemiology of ventricular septal defects?
They are the most common type of congenital cardiac abnormality.
They’re associated with other congenital conditions like Down’s and Turner’s Syndromes
What is the pathophysiology of a ventricular septal defect?
Increased pressure in the left ventricle compared to the right causes blood to typically flows from left the right through the hole. As blood is still flowing around the lungs before entering the rest of the body, therefore they remain acyanotic (not cyanotic) because their blood is properly oxygenated.
A left to right shunt leads to right sided overload, right heart failure and increased flow into the pulmonary vessels however which causes pulmonary hypertension.
This can eventually cause the pressure in the right side of the heart to become greater than the left, resulting in the blood being shunted from right to left and avoiding the lungs. When this happens the patient will become cyanotic because blood is bypassing the lungs (Eisenmenger Syndrome).
What is the clinical presentation of a ventricular septal defect?
VSDs are often initially symptomless and are picked up incidentally with antenatal scans or when a murmur is heard. But typical symptoms include:
- Poor feeding
- Dyspnoea
- Tachypnoea
- Failure to thrive
Signs
* Pan-systolic murmur more prominently heard at the left lower sternal border in the third and fourth intercostal spaces.
* Systolic thrill on palpation
What are some differentials for ventricular septal defects?
Mitral Regurgitation (MR)
Similarities: pansystolic murmur.
Differences: VSD has a loud, harsh pansystolic murmur at the left lower sternal edge. MR has a blowing, pansystolic murmur loudest at the mitral region and that radiates to the axilla.
Tricuspid Regurgitation (TR)
Similarities: pansystolic murmur.
Differences: TR pansystolic murmur is loudest in the tricuspid region.
Atrial Septal Defect (ASD)
Similarities: both congenital heart defects of the septum. Small ASDs and VSDs can be completely asymptomatic and do not require intervention.
Differences: larger VSDs can lead to symptoms such as faltering growth, tachypnoea, recurrent respiratory infections, fatigue and heart failure. Most ASDs, even if larger, are asymptomatic.
What is the diagnostic investigation for Ventricular Septal defects?
Transthoracic echocardiogram
What other investigations can be done for a ventricular septal defect?
ECG - May show left ventricular hypertrophy (LVH), p pulmonale, or biventricular hypetrophy (BVH)
Chest XRay - May show cardiomegaly
What is the management of ventricular septal defects?
The majority will self-resolve (especially if small). Infants are closely observed and nutritional support is provided.
Larger defects that don’t close, or that cause heart failure can be corrected surgically:
* Transvenous catheter closure via the femoral vein or
* Open heart surgery
What are patients with a ventricular septal defect at an increased risk of?
Infective Endocarditis
Antibiotic prophylaxis should be considered during surgical procedures to reduce the risk.
What is the definition of Eisenmenger Syndrome?
Eisenmenger syndrome describes a pathological medical condition wherein a congenital left-to-right heart shunt reverses into a right-to-left shunt.
This reversal is typically secondary to pulmonary hypertension and is associated with right ventricular hypertrophy.
What is the aetiology of Eisenmenger syndrome?
- Increased pulmonary pressures, lead to pathological changes in the pulmonary vasculature and resultant pulmonary hypertension.
- Pulmonary hypertension subsequently induces the reversal of the original left-to-right shunt, accompanied by right ventricular hypertrophy.
When does Eisenmenger syndrome typically develop?
In late teens
What is the clinical presentation of Eisenmenger syndrome?
- Cyanosis
- Clubbing
- Dyspnoea
As the condition progresses, patients can develop right heart failure.
Other possible signs include:
Right ventricular heave
Loud P2 heart sound
Raised JVP
Peripheral oedema
What is the gold standard investigation for Eisenmenger Syndrome?
Cardiac catheterization
It helps identify and quantify the shunt and assess the degree of pulmonary hypertension.
What other investigations can help to diagnose Eisenmenger Syndrome?
Echocardiography
Pulmonary function tests
What are some differentials of Eisenmenger syndrome?
Congenital heart diseases
Chronic obstructive pulmonary disease (COPD)
Pulmonary embolism
What is the management of Eisenmenger syndrome?
Most effective treatment is preventative. Involving early identification and prompt treatment of causes leading to left-to-right shunts.
If it’s not prevented then the only definitive treatment is a heart-lung transplant. If this isn’t feasible, then palliative care becomes the focus.
Medical management of the symptoms can involve:
- Oxygen
- sildenafil (to manage pulmonary hypertension)
- Anticoagulation (to prevent thrombosis)
- Prophylactic antibiotics (to prevent infective endocarditis)
What is the prognosis of Eisenmenger Syndrome?
Reduces life expectancy by around 20 years
Main causes of death are heart failure, infection, thromboembolism and haemorrhage.
The mortality can be up to 50% in pregnancy.
What is the definition of Cyanotic Heart Disease?
The term cyanotic heart disease, encompasses a range of congenital heart defects resulting in a right-to-left shunt, which leads to systemic arterial desaturation and subsequent cyanosis within the first few weeks of life.
What causes cyanotic heart disease?
Congenital malformations that result in the formation of a right-left shunt:
- Transposition of the great arteries: In this defect, the aorta and pulmonary trunk have their insertions swapped around.
- Pulmonary and tricuspid atresias: This causes the right side of the heart to be a dead-end.
- Tetralogy of Fallot: Here, pulmonary stenosis in combination with a large ventricular septal defect results in shunting at the ventricular level.
What is the clinical presentation of Cyanotic Heart Disease?
Affected infants typically present within the first few weeks of life:
Visible cyanosis: This is a consequence of systemic arterial desaturation.
Additional symptoms and signs may vary depending on the specific congenital defect
What are some differentials of Cyanotic Heart Disease?
Other conditions that cause cyanosis in infancy:
Methemoglobinemia
Signs include cyanosis and chocolate-brown colored blood.
Polycythemia
Symptoms include ruddy complexion, and in severe cases, symptoms of hyperviscosity like dizziness and headache.
Pulmonary disease
Symptoms can range from tachypnea and respiratory distress to cyanosis in severe cases.
Sepsis
Presents with symptoms such as fever, lethargy, poor feeding, and in severe cases, cyanosis.
How is cyanotic heart disease diagnosed?
Definitive diagnosis: Echocardiography
However diagnosis is often made antenatally during routine ultrasound scans.
What is the management of cyanotic heart disease?
Definitive management:
* Surgical correction of the defect
* If surgical correction isn’t suitable, then a heart transplant may be considered.
While awaiting surgery, prostaglandin E is given to maintain patency of the ductus arteriosus, (which provides temporary relief from cyanosis).
What is the definition of Tetralogy of Fallot?
Tetralogy of Fallot is a cyanotic congenital cardiac condition, consisting of four key anatomical abnormalities:
- Ventricular septal defect (VSD)
- Overriding aorta
- Pulmonary valve stenosis (Right ventricular outflow tract obstruction)
- Right ventricular hypertrophy
What is the epidemiology of Tetralogy of Fallot?
Equal prevalence in males and females
May occur alongside chromosomal abnormalities like Down’s or DiGeorge syndrome
What are some risk factors for Tetralogy of Fallot?
Rubella infection
Increased age of the mother (over 40 years)
Alcohol consumption in pregnancy
Diabetic mother
What is the clinical presentation of Tetralogy of Fallot?
- Cyanosis
- Clubbing
- Poor feeding
- Poor weight gain
- Ejection systolic murmur heard loudest in the pulmonary area
- Tet spells
What are Tet spells?
Are intermittent symptomatic periods where the right to left shunt becomes temporarily worsened, precipitating a cyanotic episode.
How do Tet spells occur?
They occur when the pulmonary vascular resistance increases or the systemic resistance decreases. This occurs when the child generates increased CO2 by exerting themselves (waking, physical exertion, crying)
CO2 is a vasodilator which thus causes systemic vasodilation and therefore reduces the systemic vascular resistance which results in blood being pumped from the right ventricle to the aorta rather than the pulmonary vessels.
What is the clinical presentation of Tet spells?
The child will become irritable, cyanotic and short of breath.
Severe spells can lead to reduced consciousness, seizures and potentially death.
What is the management of a Tet spell?
Older children may squat when a tet spell occurs. Younger children can be positioned with their knees to their chest. (Increases systemic vascular resistance encouraging blood into the pulmonary vessels)
Medical Management
* Supplementary oxygen is essential in hypoxic children as hypoxia can be fatal.
- Beta blockers can relax the right ventricle and improve flow to the pulmonary vessels.
- IV fluids can increase pre-load, increasing the volume of blood flowing to the pulmonary vessels.
- Morphine can decrease respiratory drive, resulting in more effective breathing.
- Sodium bicarbonate can buffer any metabolic acidosis that occurs.
- Phenylephrine infusion can increase systemic vascular resistance.
What investigations are done for Tetralogy of Fallot?
Diagnostic: Echocardiogram (As with all structural congenital cardiac abnormalities)
Doppler flow studies can be done during the echo to assess the severity of the abnormality and shunt.
Chest XRay - Shows “boot shaped” heart due to right ventricular thickening.
What is the management of Tetralogy of Fallot?
Definitive treatment is Total Surgical Repair by open heart surgery
In neonates, a prostaglandin infusion can be used to maintain the ductus arteriosus (allowing blood to flow from the aorta back to the pulmonary arteries)
What is the definition of Paediatric Heart Failure?
It refers to a complex clinical syndrome in which the heart, due to structural or functional anomalies, cannot pump an adequate amount of blood to meet the metabolic needs of the child’s body.
What causes Paediatric heart failure?
It’s primarily related to congenital heart defects,
But can also be associated with acquired conditions like myocarditis, cardiomyopathies, arrhythmias, or hypertension.
What is the clinical presentation of paediatric heart failure?
Infants
Difficulty feeding
Faltering growth
Young children
Exercise intolerance
Abdominal pain and vomiting (especially upon exertion)
Fatigue
Poor appetite
Adolescents
Exercise intolerance
Fatigue
Common symptoms across all age groups include:
potential oedema
cyanosis
hepatomegaly
A heart murmur may be present in children with structural heart defects.
What are some differentials for paediatric heart failure?
Asthma
Pneumonia
Gastro-oesophageal reflux disease
Anemia
What are the investigations for paediatric heart failure?
Blood tests
Full blood count (FBC)
Urea and Electrolytes (U&Es)
Liver Function Tests (LFTs)
C-Reactive Protein (CRP)
Thyroid Function Tests (TFTs)
Bone profile, Magnesium
B-type Natriuretic Peptide (BNP)
Imaging
Chest X-ray and Echocardiogram
ECG
What is the management of paediatric Heart Failure?
Conservative
Fluid restriction and dietitian-guided feeding plans
Medical
Use of diuretics with inotropic support, if required
Surgical
Correction of the anatomical defect causing heart failure (if present)
Heart transplant in end-stage cases
What is the definition of Transposition of the Great Arteries (TGA)?
Transposition of the great arteries (TGA) is a cyanotic congenital cardiac defect in which the origins of the aorta and pulmonary artery are reversed, or transposed.
Meaning the right ventricle pumps blood into the aorta and the left ventricle pumps blood into the pulmonary vessels.
What is the epidemiology of TGA?
Slightly more common in males than in females
Maternal diabetes mellitus associated with increased risk
What is the aetiology of TGA?
Normal heart development involves the spiralling of the aortopulmonary septum.
In TGA, this spiralling fails to occur, leading to the aorta arising from the right ventricle and supplying the systemic circulation, while the pulmonary artery arises from the left ventricle and supplies the pulmonary circulation.
Is TGA compatible with life?
No
As the it results in two parallel and separate circulations that don’t mix (one travelling through the systemic system and right side of the heart and the other traveling through the pulmonary system and left side of the heart).
How can TGA be compatible with life?
If there is shunting via the ductus arteriosus or any existing septal defects.
What is the clinical presentation of TGA?
- Cyanosis at birth or shortly after birth
- Rapid breathing or shortness of breath
- Poor feeding
- Low weight gain
- Heart murmur detected by a physician
What are some differentials for TGA?
Tetralogy of Fallot
Tricuspid Atresia
Total Anomalous Pulmonary Venous Return (TAPVR)
How is TGA often detected?
It’s often diagnosed during pregnancy with an antenatal ultrasound scan.
What is the diagnostic investigation for TGA?
Echocardiography
Used postnatally to confirm the diagnosis and to evaluate the structure and function of the heart.
What is the management of TGA?
Medical
Prostaglandin E infusions: This maintains the patency of the ductus arteriosus while awaiting surgical intervention.
Surgical
Definitive treatment is open heart surgery to correct the defect. This involves a cardiopulmonary bypass machine performing an “arterial switch” procedure within a few days of birth.
A Balloon Septostomy can also be done to create a large atrial septal defect, to allow time for further surgical management.
What is the definition of Rheumatic Fever?
Rheumatic Fever is an auto-immune systemic complication of Lancefield group A beta-haemolytic streptococcal infection, that occurs 2-4 weeks post infection.
What is the pathophysiology of Rheumatic Fever?
The immune system creates antibodies to fight the group A beta-haemolytic streptoccocus infection (scarlet fever).
However, these antibodies not only target the bacteria, but also cross-react with the person’s endocardium leading to valvular disease. (This is known as molecular mimicry).
This results in a type 2 hypersensitivity reaction, where the immune system begins attacking cells throughout the body.
What is the epidemiology of Rheumatic Fever?
It is very rare in developed countries (as the infection is treated with antibiotics)
But is a common cause of valvulopathy in children and young adults in the developing world
What is the clinical presentation of Rheumatic Fever?
Presents 2-4 weeks following a streptococcal infection, such as tonsillitis. Symptoms affect multiple systems:
- Fever
- Joint pain
- Rash
- Shortness of breath
- Chorea
- Nodules
How are joints affected in Rheumatic Fever?
Rheumatic fever causes a **migratory arthritis **affecting the large joints, with hot, swollen, painful joints.
It is migratory because different joints become inflamed and improve at different times, giving the appearance that the arthritis is moving from one joint to the next.
What is the heart involvement for Rheumatic Fever?
Carditis, or inflammation throughout the heart, with pericarditis, myocarditis and endocarditis.
Which can present with:
* Tachycardia or bradycardia
* Murmurs from valvular heart disease, typically mitral valve disease
* Pericardial rub on auscultation
* Heart failure
What is the skin involvement for Rheumatic Fever?
Subcutaneous nodules
Erythema marginatum rash
Firm painless nodules occur over extensor surfaces of joints, such as the elbows.
The erythema marginatum rash involves pink rings of varying sizes affecting the torso and proximal limbs.
How is the nervous system involved in Rheumatic Fever?
Chorea is the key nervous system symptom.
Also known as Sydenham chorea and historically as St Vitus’ Dance.
What investigations can be done for Rheumatic Fever?
- Throat swab for bacterial culture
- ASO antibody titres
- Echocardiogram, ECG and chest xray can assess the heart involvement
How is Rheumatic Fever Diagnosed?
Jones Criteria
(alongside evidence of past streptococcal infection using e.g. ASO antibody titres or throat swab)
How does the Jones Criteria diagnose Rheumatic Fever?
A diagnosis of rheumatic fever can be made when there is evidence of recent streptococcal infection, plus:
Two major criteria OR
One major criteria plus two minor criteria
JONES
What are the major Jones Criteria?
J – Joint arthritis
O – Organ inflammation, such as carditis
N – Nodules
E – Erythema marginatum rash
S – Sydenham chorea
FEAR
What are the minor Jones Criteria?
F -Fever
E - ECG Changes (prolonged PR interval) without carditis
A - Arthralgia without arthritis
R - Raised inflammatory markers (CRP and ESR)
What are some differentials for Rheumatic Fever?
Systemic lupus erythematosus (SLE)
Kawasaki Disease
Both can present with joint pain, fever, strawberry tongue and can lead to cardiac complications.
But; cardiac manifestations of Kawasaki Disease are classically coronary artery aneurysms opposed to valvular pathologies.
Reactive Arthritis
Both can present with joint pain and constitutional symptoms including fevers.
But; reactive arthritis does not lead to cardiac manifestations.
What is the most common valvular complication of rheumatic fever?
Mitral Stenosis
What other valvular complications can arise from rheumatic fever?
- Mitral stenosis (Most common)
- Mitral regurgitation
- Mixed mitral stenosis and regurgitation
- Aortic regurgitation
- Aortic stenosis (rare in isolation)
- Tricuspid regurgitation or stenosis
What is the management of Rheumatic Fever?
First line is a STAT dose of IV Benzylpenicillin, with a ten day course of Phenoxymethylpenicillin to follow (to eradicate the strep infection).
Other management involves:
- NSAIDs (e.g. ibuprofen) for joint pain
- Aspirin and steroids are used to treat carditis
- Prophylactic antibiotics (oral or intramuscular penicillin) are used to prevent further streptococcal infections and recurrence of the rheumatic fever. (These are continued into adulthood.)
What is the Ductus Arteriosus?
It is a normal foetal artery that connects the aorta and pulmonary artery.
Define a patent ductus arteriosus
The ductus arteriosus normally stops functioning within 1-3 days of birth, and closes completely within the first 2-3 weeks of life.
When it fails to close, this is called a “patent ductus arteriosus” (PDA).
What are some risk factors for a patent ductus arteriosus?
Prematurity
Maternal rubella infection during pregnancy
What is the pathophysiology of a patent ductus arteriosus?
Pressure in the aorta is higher than that in the pulmonary vessels, so blood flows from the aorta to the pulmonary artery (creating a left to right shunt).
This increases the pressure in the pulmonary vessels causing pulmonary hypertension, leading to right sided heart strain.
Pulmonary hypertension and right sided heart strain lead to right ventricular hypertrophy.
The increased blood flowing through the pulmonary vessels and returning to the left side of the heart leads to left ventricular hypertrophy.
What is the clinical presentation of a patent ductus arteriosus?
Small PDAs can be asymptomatic throughout childhood and present with signs of heart failure in adulthood.
Distinctive continuous crescendo-decrescendo “machinery” murmur that may continue during the second heart sound
Can also present with:
Shortness of breath
Difficulty feeding
Poor weight gain
Lower respiratory tract infections
What are some differentials for a patent ductus arteriosus?
Congenital heart defects
Coarctation of the aorta
characterised by upper body hypertension, lower body hypotension, and weak or absent femoral pulses.
Pulmonary hypertension
presenting with exertional dyspnea, chest pain, and signs of right heart failure
What is the diagnostic investigation for a patent ductus arteriosus?
Echocardiogram
(Doppler flow studies during the echo can assess the size and characteristics of the left to right shunt)
What is the management of a ductus arteriosus?
Management only required if patient has symptoms
Medical
- NSAIDs (in 1/3 of patients) as they inhibit prostaglandin synthesis (which typically helps maintain patency).
- Paracetamol can be used as an alternative to NSAIDs.
Surgical
- After a year of monitoring, if the PDA hasn’t closed, then trans-catheter or surgical closure can be performed.
What is the definition of Arrhythmias?
They’re abnormal heart rhythms that result from an interruption to the normal electrical signals that coordinate the contraction of the heart muscle.
There are several types
What are some shockable rhythms?
Ventricular tachycardia
Ventricular fibrillation
What are some un-shockable rhythms?
Pulseless electrical activity (all electrical activity except VF/VT, including sinus rhythm without a pulse)
Asystole (no significant electrical activity)
What is the definition of a narrow complex tachycardia?
Narrow complex tachycardia refers to a fast heart rate with a QRS complex duration of less than 0.12 seconds.
What are the 4 main differentials for a narrow complex tachycardia?
Sinus tachycardia
Supraventricular tachycardia
Atrial fibrillation
Atrial flutter
What is the management of narrow complex tachycardias?
(that have life-threatening features like loss of consciousness (syncope), heart muscle ischaemia (e.g. chest pain) or shock) (haemodynamically unstable)
Synchronised DC cardioversion under sedation or general anaesthesia.
IV amiodarone is added if initial DC shocks are unsuccessful.
What is the definition of a broad complex tachycardia?
Broad complex tachycardia refers to a fast heart rate with a QRS complex duration of more than 0.12 seconds.
What are the different types of broad complex tachycardia?
- Ventricular tachycardia (or unclear cause)
- Polymorphic ventricular tachycardia, such as torsades de pointes
- Atrial fibrillation with bundle branch block
- Supraventricular tachycardia with bundle branch block
What is the management of Ventricular tachycardia?
IV Amiadorone
What is the management of Polymorphic ventricular tachycardia?
IV Magnesium
What is the management of broad complex tachycardias with life threatening features (haemodynamically unstable)?
Synchronised DC cardioversion under sedation or general anaesthesia.
IV amiodarone is added if initial DC shocks are unsuccessful.
(Same as narrow complex )
What is the definition of atrial flutter?
Atrial flutter is a common supraventricular tachycardia (SVT).
It is characterised by an abnormal cardiac rhythm with an atrial rate of 300 beats/min and a ventricular rate that can be fixed or variable.
How often do the ventricles usually contract compared to the atria in atrial flutter?
Usually 2:1 conduction (2 atrial contractions for every ventricle contraction)
Thus the HR would be 150bpm
Although the conduction rate can be 3:1 or even 4:1
Why don’t the ventricles contract every time the atria do in atrial flutter?
As the electrical signal can’t enter the ventricles on every lap due to the long refractory period of the atrioventricular node
What is the classic ECG appearance of atrial flutter?
Sawtooth appearance with repeated P waves occurring at around 300 per minute. In a regular rhythm).
With a narrow complex tachycardia (narrow QRS Complex).
What is the pathophysiology of atrial flutter?
Normally the electrical signal passes through the atria once, stimulating a contraction, then disappears through the atrioventricular node into the ventricles.
Atrial flutter is caused by a re-entrant rhythm in the right atrium. The electrical signal re-circulates in a self-perpetuating loop due to an extra electrical pathway in the atria.
The signal goes round and round the atrium without interruption resulting in a very high atrial HR.
What can cause atrial flutter?
Its likely to occur with pulmonary disease such as:
- COPD
- Obstructive sleep apnoea
- Pulmonary emboli
- Pulmonary hypertension
Other causes:
Ischaemic heart disease
Sepsis
Alcohol
Cardiomyopathy
Thyrotoxicosis
What is the clinical presentation of atrial flutter?
Asymptomatic
Palpitations
Lightheadedness
Syncope
Chest pain
What is the management of atrial flutter in Haemodynamically Unstable Patients?
1st line = direct current synchronised cardioversion +/- amiodarone
What is the management of atrial flutter in Haemodynamically Stable Patients?
Treat reversible causes e.g. fluid rehydration (in septic/dehydrated patients)
Rate and Rhythm control
- 1st line = beta-blocker (bisoprolol) OR calcium channel blocker (diltiazem, verapamil)
- 2nd line = if rate control fails to control flutter than consider cardioversion (either electrical or pharmacological with drugs like amiodarone, sotalol, or digoxin)
- 3rd line = recurrent or refractory flutter managed with ablation of arrhythmogenic foci at cavotricuspid isthmus.
Anticoagulation
According to CHA2DS2VASc score due to increased risk of ischaemic stroke
What are the possible complications of atrial flutter?
- Ischaemic stroke if not appropriately anticoagulated.
- Tachycardia-induced cardiomyopathy leading to heart failure.
What is classed as a prolonged QT interval?
(In both men and women)
More than 440 milliseconds in men
More than 460 milliseconds in women
What is depolarisation of the heart?
Depolarisation is the electrical process that leads to heart contraction.
What is repolarisation of the heart?
Repolarisation is a recovery period before the muscle cells are ready to depolarise again.
What is the pathophysiology of prolonged QT intervals?
A prolonged QT interval represents prolonged repolarisation of the heart muscle cells (myocytes) after a contraction.
Waiting a long time for repolarisation can result in spontaneous depolarisation in some muscle cells. These abnormal spontaneous depolarisations before repolarisation are known as afterdepolarisations.
These afterdepolarisations spread throughout the ventricles, causing a contraction before proper repolarisation.
When this leads to recurrent contractions without normal repolarisation, it is called torsades de pointes.
What are Torsades de pointes?
Its type of polymorphic ventricular tachycardia.
It translates from French as “twisting of the spikes”, describing the ECG characteristics.
What do torsades de pointes look like on ECG?
It looks like standard ventricular tachycardia but with the appearance that the QRS complex is twisting around the baseline.
The height of the QRS complexes gets progressively smaller, then larger, then smaller, and so on.
What will eventually happen to torsades de pointes?
They will terminate spontaneously and revert to sinus rhythm or progress to ventricular tachycardia.
Ventricular tachycardia can lead to cardiac arrest.
What are the causes of a prolonged QT interval?
- Long QT syndrome (an inherited condition)
- Medications, such as antipsychotics, citalopram, flecainide, sotalol, amiodarone and macrolide antibiotics
- Electrolyte imbalances, such as hypokalaemia, hypomagnesaemia and hypocalcaemia
What is the management of prolonged QT intervals?
- Stopping and avoiding medications that prolong the QT interval
- Correcting electrolyte disturbances
- Beta blockers (not sotalol)
- Pacemakers or implantable cardioverter defibrillators
What does the acute management of Torsades de Pointes involve?
- Correcting the underlying cause (e.g., electrolyte disturbances or medications)
- Magnesium infusion (even if they have normal serum magnesium)
- Defibrillation if ventricular tachycardia occurs
What are Ventricular Ectopics?
They are premature ventricular beats caused by random electrical discharges outside the atria.
Patients often present complaining of random extra or missed beats.
They are relatively common at all ages and in healthy patients.
(but are more common in those with pre-existing heart conditions).
How do ventricular ectopics appear on ECG?
They appear as isolated, random, abnormal, broad QRS complexes on an otherwise normal ECG.
Define Bigeminy
Bigeminy refers to when every other beat is a ventricular ectopic.
The ECG shows a normal beat, followed immediately by an ectopic beat, then a normal beat, then an ectopic, and so on.
Define first degree heart block
PR interval greater than 0.2 seconds
It occurs where there is delayed conduction through the atrioventricular node. Despite this, every atrial impulse still leads to a ventricular contraction, meaning every P wave is followed by a QRS complex.
Define second degree heart block
Second-degree heart block is where some atrial impulses don’t make it through the atrioventricular node to the ventricles.
Thus, there are instances where P waves are not followed by QRS complexes. There are two types.
What are the 2 types of second degree heart block?
Mobitz type 1 (Wenckebach phenomenon)
Mobitz type 2
Describe Mobitz Type 1 heart block
It is where the conduction through the atrioventricular node takes progressively longer until it finally fails, after which it resets, and the cycle restarts.
On an ECG, there is an increasing PR interval until a P wave is not followed by a QRS complex. The PR interval then returns to normal, and the cycle repeats itself.
Describe Mobitz Type 2 heart block
This is where there is intermittent failure of conduction through the atrioventricular node, with the occasional absence of QRS complexes following P waves.
There is usually a set ratio of P waves to QRS complexes, for example, three P waves for each QRS complex (3:1 block).
The PR interval remains normal
There is a risk of asystole
Define Third Degree heart block
Also called complete heart block.
There is no observable relationship between the P waves and QRS complexes.
There is a significant risk of asystole
Define Asystole
Asystole refers to the absence of electrical activity in the heart (resulting in cardiac arrest).
What are the can cause asystole?
- Mobitz type 2
- Third-degree heart block (complete heart block)
- Previous asystole
- Ventricular pauses longer than 3 seconds
What does the management of unstable patients at risk of asystole involve?
- Intravenous atropine (first line)
- Inotropes (e.g., isoprenaline or adrenaline)
- Temporary cardiac pacing
- Permanent implantable pacemaker, when available
What are the options for temporary cardiac pacing?
- Transcutaneous pacing, using pads on the patient’s chest
- Transvenous pacing, using a catheter, fed through the venous system to stimulate the heart directly
What is Atropine?
Atropine is an antimuscarinic medication and works by inhibiting the parasympathetic nervous system.
What are some side effects of atropine?
pupil dilation
dry mouth
urinary retention
constipation.
What is the definition of Atrial Fibrillation?
Atrial fibrillation (AF) is characterised by irregular, uncoordinated atrial contraction usually at a rate of 300-600 beats per minute.
Delay at the AVN means that only some of the atrial impulses are conducted to the ventricles, resulting in an irregular ventricular response.
What is the epidemiology of Atrial Fibrillation?
AF is the commonest sustained cardiac arrhythmia.
(Atrial Flutter is second most common)
The prevalence of AF roughly doubles with each advancing decade of age
How is AF classified?
- Acute: lasts <48 hours
- Paroxysmal: lasts <7 days and is intermittent
- Persistent: lasts >7 days but is amenable to cardioversion
- Permanent: lasts >7 days and is not amenable to cardioversion
It can also be classed as fast or slow:
Fast AF : >100bpm
Slow AF: <60bpm
What are the causes of AF?
Cardiac
- Ischaemic heart disease: most common cause in the UK.
- Hypertension
- Rheumatic heart disease (typically affecting the mitral valve): most common cause in less developed countries.
- Peri-/myocarditis
Non-cardiac
- Dehydration
- Endocrine causes e.g. hyperthyroidism
- Infective causes e.g. sepsis
- Pulmonary causes e.g. pneumonia or pulmonary embolism
- Environmental toxins e.g. alcohol abuse
- Electrolyte disturbances e.g. hypokalaemia, hypomagnesaemia
What are the symptoms of AF?
Palpitations
Chest pain
Shortness of breath
Lightheadedness
Syncope
What are the signs of AF?
- Irregularly irregular pulse rate with a variable volume pulse.
- A single waveform on the jugular venous pressure (due to loss of the a wave - this normally represents atrial contraction).
- An apical to radial pulse deficit (as not all atrial impulses are mechanically conducted to the ventricles).
- On auscultation there may be a variable intensity first heart sound.
What are some differentials for AF?
Atrial Flutter
Distinguishing between the two requires an ECG.
Supraventricular Tachycardia
Distinguishing between different types of SVT requires an ECG.
Ventricular Tachycardia
ECG patterns differ tremendously.
What is the diagnostic investigation for AF?
12-lead ECG
Shows absence of p waves with an irregularly irregular rhythmn.
What other investigations should be ordered for AF?
- Routine bloods: to look for reversible causes (e.g. infection (raised WCC and CRP), Hyperthyroidism (raised T3/T4))
- Echocardiography - To see if there is a cardoiac cause for the AF (e.g. left atrial dilatation secondary to mitral valve disease).
What is the management of acute AF in patients with adverse signs (shock, syncope, heart failure, myocardial ischaemia)?
1st line = synchronised DC cardioversion +/- amiodarone
What is the management of acute AF in stable patients and onset of AF <48 hours?
Rate or rhythmn control
Either:
* Rhythm control with DC cardioversion (+ sedation)
* or pharmacological anti-arrhythmics (fleicanide if no structural heart disease, amiodarone if history of structural heart disease).
If DC cardioversion is delayed then heparin will be required to anticoagulate the patient.
What is the management of acute AF in stable patients and onset of AF >48 hours (or unclear time of onset)
Rate control only
- Rate control with beta-blockers or diltiazem.
- Need to anticoagulate for 3/52 prior to attempting cardioversion due to the risk of throwing off a clot. You can also perform a TOE to exclude a mural thrombus.
What is the management of chronic AF?
Management focusses on symptomatic relief and control of stroke risk
- 1st Line = Rate Control (reduces patient’s HR to control symptoms)
- Rhythem Control is only appropriate in certain patients
- Anticoagulation should be given to males who score 1 or more, and females who score 2 or more in CHADS2VASc
What are the medications used for Rate Control of chronic AF?
- 1st line: beta-blocker (bisoprolol) or rate-limiting calcium channel blocker (diltiazem).
- 2nd line: dual therapy of beta blockers and rate limiting CCBs
- Digoxin monotherapy may be considered in those with non-paroxysmal AF who are sedentary.
In what patients with chronic AF is rhythm control appropriate for?
- AF secondary to a reversible cause
- Heart failure thought to be caused by AF
- New-onset AF
- Or those for whom a rhythm control strategy would be more suitable based on clinical judgement.
How can Rhythm control be achieved for chronic AF?
- Electrical cardioversion
- Pharmacological cardioversion: amiodarone, fleicanide or sotalol.
- Catheter Ablation of the arrhythmogenic focus between the pulmonary veins and left atrium is a final option for rhythm control. But with this method, there is a high risk of reccurence.
What are the options for anticoagulation for patients with AF?
- 1st Line: Direct oral anticoagulants (DOACs) e.g. edoxaban, apixaban, rivaroxaban & dabigatran. These don’t require monitoring.
- Warfarin - Requires cover with LMWH for 5 days when initiating treatment; and regular INR monitoring. This is the only option for those with Valvular AF
- Low Molecular Weight Heparin (LMWH) - e.g. enoxaparin. This is a rare option for those who can’t tolerate oral treatment. Requires daily injections.
What are some possible complications of AF?
Heart failure
Systemic emboli:
* Ischaemic Stroke
* Mesenteric ischaemia
* Acute limb ischaemia
Bleeding:
* GI
* Intracranial
What is the definition of Infective Endocarditis?
Infective endocarditis (IE) is the infection of the inner surface of the heart (endocardium), usually the valves.
What is the most important risk factor for infective endocarditis?
Infective endocarditis is most commonly seen in patients with a history of congenital or acquired cardiac disease:
- Ventricular septal defects
- Patent ductus arteriosus
- Aortic valve abnormalities including bicuspid aortic valve
- Tetralogy of fallot
What are some other risk factors for infective endocarditis?
- Male sex
- IVDU: predisposition to Staph. aureus infection and right-sided valve disease e.g. tricuspid endocarditis.
- Poor dentition and dental infections
- Prosthetic valves
- Previous history of infective endocarditis
- Intravascular devices: central catheters and shunts.
- Haemodialysis
- HIV infection
What is the epidemiology of infective endocarditis?
More common in Males and the elderly
How can infective endocarditis be classified?
Acute vs Chronic
- Acute IE: patient has signs or symptoms for days up to 6 weeks.
- Subacute IE: patients has signs or symptoms for 6 weeks up to 3 months.
- Chronic IE: patients has signs or symptoms that persist for longer than 3 months.
Valve Type
- Native-valve endocarditis: patient without prosthetic valve implant.
- Prosthetic-valve endocarditis
What are the most common causative organisms of infective endocarditis?
Most common descending:
* Staph. aureus (most common cause)
* Strep. viridans used to be the most common. Implicated in patients with poor dental hygiene.
* Enterococci
* Coagulase negative staphylococci e.g. staph. epidermidis: common inprosthetic valve endocarditis.
* Strep. bovis: important link with colorectal cancer. Need to consider colonoscopy and biopsy in these patients.
* Fungal
* HACEK organisms (Haemophilus, Actinobacillus, Cardiobacterium, Eikenella, Kingella): culture negative causes of IE.
* Non-infective: marantic endocarditis (malignancy - pancreatic cancer), Libman-Sacks endocarditis (SLE).
What is the pathophysiology of infective endocarditis?
In order for IE to occur you must have the triad of endothelial damage, platelet adhesion and microbial adherence
When part of the endocardium is damaged, the heart valve forms a local blood clot known as non-bacterial thrombotic endocarditis (NBTE).
The platelets and fibrin deposits that form as part of the clotting process allows bacteria to stick to the endocardium leading to the formation of vegetations.
The valves do not have a dedicated blood supply and so the body is unable to launch an appropriate immune response to the vegetations.
What is the clinical presentation of infective endocarditis?
Symptoms:
* Fever: most common symptom.
* Night sweats
* Anorexia
* Weight loss
* Myalgia
Signs
* Murmur: fever + new murmur is infective endocarditis until proven otherwise
* Janeway lesions
* Splinter haemorrhages
* Osler’s nodes
* Roth spots
* Glomerulonephritis
What is the difference between Janeway Lesions and Osler’s Nodes?
Janeway Lesions:
Painless haemorrhagic cutaneous lesions in the palms and soles.
Osler’s Nodes:
Painful pulp infarcts on end of fingers
What are Roth Spots?
Boat-shaped retinal haemorrhages with pale centres seen on fundoscopy
What are some differentials for infective endocarditis?
- Non-infectious endocarditis/Nonbacterial thrombotic endocarditis (NBTE)
- Rheumatic Fever
How is infective endocarditis diagnosed?
Modified Duke Criteria
How does the modified duke criteria diagnose infective endocarditis?
For a definitive diagnosis: two major criteria, or one major and three minor criteria or all five minor criteria must be present.
Major Criteria
* Blood culture positive for IE (2 x separate positive blood cultures showing typical microorganisms, or Persistent bacteraemia with 2x blood cultures >12 hours apart or =>3 positive blood cultures with less specific microorganisms, or Single positive blood culture for Coxiella burnetti or positive antibody titre)
- Evidence of endocardial involvement with Echocardiography (Transthoracic Echo (TTE) = 1st line, Transoesophageal Echo (TOE) = 2nd line) showing vegetation, abscess, partial dehiscence of prosthetic valve or new valvular regurgitation.
Minor Criteria
* Fever: >38.0 degrees celsius.
* Immunological phenomena: Roth spots, splinter haemorrhages or Olser’s nodes.
* Vascular phenomena: evidence of septic embolis (splenic infarct/abscess), Janeway lesions.
* Echocardiogram minor criteria: not meeting major criteria.
* Predisposing features: known valvular disease, IVDU, prosthetic valves etc.
* Microbiological evidence that does not meet major criteria: blood culture not meeting major criteria, or serological evidence of active infection with organism consistent with IE
What other investigations can be ordered for infective endocarditis?
- ECG: increasing prolongation of PR interval suggests development and worsening of aortic root abscess.
- Urine dip: look for haematuria which may suggest development of glomerulonephritis.
- Routine bloods: significant elevation of inflammatory markers (in Acute IE) or Normocytic anaemia (in Subacute/chronic IE)
- CT CAP: used to look for evidence of septic emboli
What is the management of infective endocarditis?
Mainstay of treatment = Prolonged course of IV antibiotics (~ 6/52)
Blind Therapy
* Native valve: amoxicillin (+/- gentamicin)
* Pen-allergy/MRSA: vancomycin (+/- gentamicin)
* Prosthetic valve: vancomycin + rifampicin + gentamicin
Native Valve S. aureus IE
* 1st line: flucloxacillin
* 2nd line: vancomycin + rifampicin
Prosthetic Valve S. aureus IE
* 1st line: flucloxacillin + rifampicin + gentamicin
Strep viridans IE
* 1st line: benzylpenicillin
* 2nd line: vancomycin + gentamicin
HACEK IE
* 1st line: ceftriaxone
Surgery can also be indicated in certain situations
In what situations would surgical treatment be indicated for infective endocarditis?
haemodynamic instability
Severe heart failure
Severe sepsis despite antibiotics/failed medical therapy
Valvular obstruction
Infected prosthetic valve
Persistent bacteraemia
Repeated emboli
Aortic root abscess (PR interval prolongation)
What are the possible complications of infective endocarditis?
- Acute valvular insufficiency causing heart failure
- Neurologic complications e.g. stroke, abscess, haemorrhage (mycotic aneurysm)
- Embolic complications causing infarction of kidneys, spleen or lung
- Infection e.g. osteomyelitis, septic arthritis
What is the definition of Anorexia Nervosa?
It’s a serious mental health disorder characterized by self-imposed starvation and a relentless pursuit of extreme thinness.
Individuals with anorexia nervosa have a distorted body image, viewing themselves as overweight even when they are dangerously underweight.
What are the 2 subtypes of anorexia nervosa?
Restrictive Subtype: Characterized by minimal food intake and excessive exercise.
Bulimic Subtype: Involves episodic binge eating followed by behaviors like laxative use or induced vomiting.
What is the diagnostic criteria for anorexia nervosa?
ICD-11
* Significantly Low Body Weight
* Fear of Gaining Weight
* Distorted Body Image
* Restrictive Eating
DSM-5
* Restriction of Energy Intake
* Intense Fear of Gaining Weight
* Body Image Disturbance
What is the epidemiology of anorexia nervosa?
- Most common in adolescents and young adults (highest incidence = 13-17)
- More common in females
- More common in industrialized countries
- Often occurs alongside other psychiatric disorders e.g. depression and anxiety
Name some key parts of an anorexic history
- Preoccupation with food and calories
- Starvation via restricting intake, purging (through induced emesis, diuretic or laxative abuse) or excessive exercise
- Poor insight
- Overvalued, intrusive obsession with weight, shape and fear of becoming fat
- Weight/calorie goals in mind regardless of their impact on physical health
What is the clinical presentation of anorexia nervosa?
- BMI <17.5 kg/m2 (contrast with bulimia nervosa, where there may be many similar features, but the BMI is normal‚ a key distinguishing feature)
- Hypotension
- Bradycardia
- Enlarged salivary glands
- Lanugo hair (fine hair covering the skin)
- Amenorrhoea (hypogonadotropic hypogonadism)
Additional features in the ‘bulimic’ subtype may include hypokalaemic hypochloraemic metabolic alkalosis, pitted teeth, parotid swelling, and scarring of the dorsum of the hand (Russell’s sign).
What blood results would be suggestive of anorexia nervosa?
- Deranged electrolytes - typically low calcium, magnesium, phosphate and potassium
- Low sex hormone levels (FSH, LH, oestrogen and testosterone)
- Leukopenia
- Raised growth hormone and cortisol levels (stress hormones)
- Hypercholesterolaemia
- Metabolic alkalosis, either due to vomiting or use of diuretics
What is the management of anorexia nervosa?
1st Line (for u18s) = Anorexia Nervosa focussed family therapy
2nd Line = Cognitive -Behavioural Therapy for Eating Disorders (CBT-ED)
In adults, other options include:
- MANTRA (Maudsley Model of Anorexia Nervosa Treatment for Adults)
- Specialist Supportive Clinical Management (SSCM)
- Selective serotonin release inhibitors (SSRIs)
What are some potential complications for anorexia nervosa?
- Refeeding syndrome
- Cardiac arrhythmias (Bradycardia and prolonged QTc are often seen)
- Osteoporosis (Long Term)
Define Refeeding Syndrome
It is potentially fatal disorder that occurs when nutritional intake is resumed too rapidly after a period of low caloric intake
What are some symptoms of refeeding syndrome?
oedema
confusion
tachycardia
What is the pathophysiology behind refeeding syndrome?
Rapidly increasing insulin levels lead to shifts of potassium, magnesium and phosphate from extracellular to intracellular spaces‚ these therefore need to be replenished.
How can refeeding syndrome be prevented?
- The provision of high-dose vitamins (eg. Pabrinex) before feeding commences
- Monitoring with daily bloods and replenishing electrolytes early
- Building caloric intake gradually with the help of a dietitian (no more than 50% of calorie requirement in ‘patients who have eaten little or nothing for more than 5 days’)
What is the definition of Bulimia Nervosa?
It is characterized by recurrent binge-eating episodes with a loss of control, followed by inappropriate compensatory behaviors to prevent weight gain.
Compensatory behaviors include self-induced vomiting, laxative or diuretic misuse, fasting, or excessive exercise.
Behaviours/episodes occur once a week or more for one month.
What is the epidemiology of Bulimia Nervosa?
It primarily affects late adolescents and young adults
More common in Female
What is the clinical presentation Bulimia Nervosa?
Psychological Symptoms:
* Binge Eating
* Purging: Induced vomiting, laxative or diuretic misuse, and excessive exercise.
* Body Image Distortion
Physical Symptoms/Signs
* Dental Erosion (from recurrent self-induced vomiting).
* Parotid Gland Swelling (from recurrent self-induced vomiting)
* Russell’s Sign = Scarring on the back of the hand or knuckles from repeated self-induced vomiting.
* Amenorrhea: Present in 50% despite normal weight.
* Excessive Vomiting Complications: Boerhaave syndrome or Mallory-Weiss tear.
* Alkalosis, due to vomiting hydrochloric acid from the stomach
* Hypokalaemia
What are some differentials for Bulimia Nervosa?
- Anorexia Nervosa
-
Kleine-Levin Syndrome
Characterized by hypersomnia, hypersexuality, and hyperphagia. -
Kluver-Bucy Syndrome
Involves compulsive eating, associated with bilateral medial temporal lobe lesions.
What investigations can be done for Bulimia Nervosa?
No specific laboratory tests; diagnosis relies on:
- Detailed medical history for binge eating and compensatory behaviors.
- Comprehensive physical examination for physical signs.
- Psychological assessments for associated conditions and body image distortion.
What is the management for Bulimia Nervosa?
In Children:
* Bulimia Nervosa Focused Family Therapy (First-line for children)
* High-Dose Fluoxetine: Considered in some cases.
In Adults:
* Bulimia Nervosa Focused Guided Self-Help targeting eating behaviors, thought patterns, body image, and self-esteem (First-line treatment in adults)
What is another term for undescended testes?
Cryptorchidism
What is the definition of undescended testes?
Cryptorchidism, or undescended testes, is a congenital condition in which one or both of the testes fail to descend into the scrotum before birth.
Usually before birth, the testes (which develop in the abdomen and then gradually migrate down through the inguinal canal) will have reached the scrotum prior to birth.
What are some risk factors for undescended testes?
- Family history of undescended testes
- Low birth weight
- Small for gestational age
- Prematurity
- Maternal smoking during pregnancy
What is the clinical presentation of undescended testes?
The absence of one or both testes in the scrotum.
This can often be identified during a physical examination.
What are some differentials for undescended testes?
Retractile testes
The testes may be in the scrotum at times but can retract into the inguinal canal when the cremaster muscle contracts.
Inguinal hernias
These present with a palpable mass in the inguinal region which can increase in size with crying or straining.
Ectopic testes
This condition is characterized by testes that have deviated from the normal path of descent and are located in abnormal positions, such as the perineum or femoral region.
What investigations can be done for undescended testes?
physical examination
ultrasound or MRI (especially in cases of unpalpable testes)
What is the management of undescended testes?
Watching and waiting is appropriate for newborns; as in most cases the testes will descend in the first 3 – 6 months. For those that don’t:
Orchidopexy (surgical correction of undescended testes) should be carried out between 6 and 12 months of age.
What is the definition of testicular torsion?
Testicular torsion refers to twisting of the spermatic cord with rotation of the testicle.
It is a urological emergency, and a delay in treatment increases the risk of ischaemia and necrosis of the testicle.
What is the epidemiology of testicular torsion?
Most common in boys aged 12-18 but it can occur at any age
What is the primary cause of testicular torsion?
The primary cause of testicular torsion is the lack of adequate tissue attachment around the testicle, allowing it to freely rotate within the scrotum.
What what are some risk factors for testicular torsion?
- Bell-Clapper deformity: An anomaly where the testis is inadequately fixed, allowing it to rotate freely.
- Undescended testicle: Testicles that have not descended fully into the scrotum may be more prone to torsion.
- Trauma: Physical injury may precipitate torsion, although it often occurs spontaneously.
- Prior intermittent torsion: Those who have previously experienced episodes of intermittent torsion may be at higher risk.
What is the clinical presentation of testicular torsion?
Acute rapid onset unilateral testicular pain, that may be associated with abdominal pain and vomiting.
Examination findings:
* Firm swollen testicle
* Elevated (retracted) testicle
* Unilateral loss of cremasteric reflex
* Abnormal testicular lie (often horizontal)
* Rotation, so that epididymis is not in normal posterior position
* Persistent pain despite elevation of the testicle (negative Prehn’s sign)
What would a positive Prehn’s sign indicate?
Epididymitis
This is where there is pain relief upon elevation of the scrotum (but this isn’t the case in torsion)
What are some differentials for testicular torsion?
-
Epididymitis
Characterized by a slower onset of pain, presence of urethral discharge, urinary symptoms, and relief with testicular elevation (positive Prehn’s sign). -
Orchitis
This condition usually presents with systemic symptoms like fever, along with testicular pain and swelling. - Trauma
-
Inguinal Hernia
Presents with groin pain, a bulge in the inguinal area, and potential bowel symptoms but without the acute onset of testicular pain.
What is the diagnostic investigation for testicular torsion?
While diagnosis of testicular torsion primarily relies on clinical features.
Doppler ultrasound can confirm the diagnosis by demonstrating reduced or absent blood flow to the affected testicle.
A scrotal ultrasound can aslo show the whirlpool sign, a spiral appearance to the spermatic cord and blood vessels.
What is the management of testicular torsion?
- Nil by mouth, in preparation for surgery
- Analgesia as required
- Urgent senior urology assessment
- Surgical exploration of the scrotum then either:
Orchiopexy (correcting the position of the testicles and fixing them in place) … OR
Orchidectomy (removing the testicle) if the surgery is delayed or there is necrosis
What are the possible complications of testicular torsion?
- Testicular necrosis: Lack of blood flow can cause tissue death, requiring surgical removal.
- Impaired fertility (or complete infertility)
What is the definition of precocious puberty?
It’s defined as the onset of secondary sexual characteristics before the age of:
* 8 in females
* 9 in males
What is the epidemiology of Precocious puberty?
More common in females
What are the 2 types of Precocious puberty?
- Gonadotrophin-dependent precocious puberty (GDPP)
- Gonadotrophin-independent precocious puberty (GIPP)
What are the causes of Gonadotrophin-dependent precocious puberty (GDPP)?
- Idiopathic (>90% of cases)
- Brain tumours
- Cranial radiotherapy
- Structural brain damage, such as:
Hydrocephalus
Post-infection (e.g., meningitis)
Traumatic head injury
What are the causes of Gonadotrophin-independent precocious puberty (GIPP)?
- Gonadal tumours
- Adrenal or liver tumours (which may cause virilisation)
- Congenital adrenal hyperplasia
What is the clinical presentation of precocious puberty?
- Rapid growth
- Early development of secondary sexual characteristics (such as breast development in girls, enlargement of the testicles or penis in boys, and pubic or underarm hair in both)
- Menstruation in girls
- Acne
- Adult body odour
- Emotional and behavioural changes
What are some differentials for precocious puberty?
-
Thyroid disorders
Symptoms may include rapid growth, weight loss, sweating, behavioural changes, and irregular menstruation in girls. -
Growth hormone excess (Gigantism/Acromegaly)
Signs may include rapid growth, increased size of hands and feet, coarsened facial features, joint pain, and excessive sweating. -
McCune-Albright Syndrome
Signs and symptoms can include early puberty, fibrous dysplasia, and café-au-lait spots on the skin. -
Adrenal Tumours
May cause signs of virilisation such as deepening of voice, excessive body hair, and masculine body changes.
What investigations are done for precocious puberty?
- Measurement of oestradiol/testosterone levels
- Measurement of adrenal androgens
- Brain MRI
- Pelvic ultrasound
- Intra-abdominal imaging if an adrenal or hepatic tumour is suspected
- Bone age assessment
What does the management of precocious puberty involve?
The use of GnRH analogues to suspend the progression of puberty.
However, the approach may vary depending on the underlying cause
What are some complications of precocious puberty?
- Accelerated skeletal development and premature fusion of bone growth plates, which can result in a reduced final adult height.
- Early onset of physical changes can significantly impact the affected child’s psychological wellbeing.
What is the definition of Hypothyroidism?
Hypothyroidism is an endocrine disorder characterized by an insufficient production of thyroid hormones, which are crucial for metabolism and energy utilization in the body.
Hypothyroidism in children can either be:
- Congenital
- Acquired
What is congenital hypothyroidism?
This is where the child is born with an underactive thyroid gland.
It can be the result of an underdeveloped thyroid gland (dysgenesis) or a fully developed gland that does not produce enough hormone (dyshormonogenesis).
What is the epidemiology of hypothyroidism?
More common in females
What is the most common cause of acquired hypothyroidism?
Autoimmune thyroiditis (also known as Hashimoto’s thyroiditis)
This causes autoimmune inflammation of the thyroid gland and subsequent under activity of the gland
What are the autoantibodies involved in Hashimoto’s Thyroiditis?
- Antithyroid peroxidase (anti-TPO) antibodies
- Antithyroglobulin antibodies
What other conditions is Hashimoto’s Thyroiditis associated with?
Other autoimmune conditions, particularly type 1 diabetes and coeliac disease.
What is the clinical presentation of congenital hypothyroidism in newborns?
- Prolonged neonatal jaundice
- Poor feeding
- Constipation
- Increased sleeping
- Reduced activity
- Slow growth and development
What is the clinical presentation of acquired hypothyroidism?
- Fatigue and low energy
- Poor growth
- Weight gain
- Poor school performance
- Cold intolerance
- Constipation
- Dry and thick skin
- Brittle hair and hair loss (including scant secondary sexual hair)
- Puffy face
- Queen Anne’s sign
What is Queen Anne’s Sign?
loss of outer 1/3 of eyebrows (indicative of hypothyroidism)
What are some differentials for hypothyroidism?
- Iron deficiency anaemia
-
Chronic fatigue syndrome
persistent fatigue, unrefreshing sleep, cognitive impairment. - Depression
What investigations should be done for hypothyroidism?
- Full thyroid function blood tests (TSH, T3 and T4) = First line
- Thyroid ultrasound
- Thyroid antibodies (Anti-TPO, Anti-thyroglobulin, Anti-TSH receptor)
What is the management of hyothyroidism?
First Line = Hormone replacement with Levothyroxine
Review the patient and re-check TSH levels every 3 months after initiation levothyroxine therapy and adjust the dose according to symptoms and TFT results.
What is the definition of delayed puberty?
Delayed puberty is defined as the absence of any signs of pubertal development by the age of:
- 14 in boys
- 13 in girls
What is the primary cause of delayed puberty?
A Constitutional delay of growth and puberty, often seen in ‘late bloomers’.
What is the definition of Hypogonadism?
Hypogonadism refers to a lack of the sex hormones, oestrogen and testosterone.
A lack of these hormones causes a delay in puberty.
What are the two types of hypogonadism?
- Hypogonadotrophic hypogonadism: a deficiency of LH and FSH
- Hypergonadotrophic hypogonadism: a lack of response to LH and FSH by the gonads (the testes and ovaries)
What can cause Hypogonadotrophic hypogonadism?
It is the result of abnormal functioning of the hypothalamus or pituitary gland; which can be due to:
- Previous damage to the hypothalamus or pituitary e.g. by radiotherapy or surgery for previous cancer
- Growth hormone deficiency
- Hypothyroidism
- Hyperprolactinaemia (high prolactin)
- Serious chronic conditions can temporarily delay puberty (e.g. cystic fibrosis or inflammatory bowel disease)
- Excessive exercise or dieting can delay the onset of menstruation in girls
- Constitutional delay in growth and development
- Kallman syndrome
What is the pathophysiology of Hypogonadotrophic hypogonadism?
Hypogonadotrophic hypogonadism is where there’s a deficiency of LH and FSH (gonadotrophs), leading to a deficiency of the sex hormones testosterone and oestrogen.
This occurs as there’s no gonadotrophs stimulating the gonads, so they don’t respond by producing testosterone or oestrogen.
What is the pathophysiology of Hypergonadotropic Hypogonadism?
This is where the gonads fail to respond to stimulation from the gonadotrophins (LH and FSH). There is no negative feedback from the sex hormones (testosterone and oestrogen), therefore the anterior pituitary produces increasing amounts of LH and FSH to try harder to stimulate the gonads.
Therefore, you get high gonadotrophins (“hypergonadotrophic”) and low sex hormones (“hypogonadism”).
What can cause Hypergonadotrophic hypogonadism?
It is the result of abnormal functioning of the gonads. This could be due to:
- Previous damage to the gonads (e.g. testicular torsion, cancer or infections, such as mumps)
- Congenital absence of the testes or ovaries
- Kleinfelter’s Syndrome (XXY)
- Turner’s Syndrome (XO)
What is the clinical presentation of delayed puberty?
Lack of physical changes that usually occur during puberty at the expected age. These can include:
* lack of breast development in girls
* lack of testicular enlargement in boys
* absence of menstruation in girls
* absence of voice changes or facial hair growth in boys
* slow growth in height in both sexes.
What are the investigations done for delayed puberty?
Initial Investigations (to assess for underlying medical conditions):
* Full blood count and ferritin for anaemia
* U&E for chronic kidney disease
* Anti-TTG or anti-EMA antibodies for coeliac disease
Hormonal blood tests:
* Early morning serum FSH and LH (the gonadotropins). (low in hypogonadotrophic hypogonadism and high in hypergonadotrophic hypogonadism).
* Thyroid function tests
* Growth hormone testing. (Insulin-like growth factor often used as screening for FH deficiency)
* Serum prolactin
Genetic Testing
* Microarray test to look for Kleinfelter’s syndrome (XXY)
or Turner’s syndrome (XO)
Imaging
* Xray of the wrist to assess bone age and inform a diagnosis of constitutional delay
* Pelvic ultrasound in girls to assess the ovaries and other pelvic organs
* MRI of the brain to look for pituitary pathology and assess the olfactory bulbs in possible Kallman syndrome
What is the the management of delayed puberty?
Depends on the underlying pathology:
Constitutional delay
Reassurance, and regular monitoring of growth and pubertal development may be all that is needed.
Hypogonadotrophic hypogonadism
Hormone replacement therapy, surgery for tumours, or management of the underlying systemic disease.
Hypergonadotrophic hypogonadism
Hormone replacement therapy and supportive care, with specific treatments for conditions like congenital adrenal hyperplasia.
What is the definition of Kallman’s Syndrome?
Is an X-Linked recessive inherited condition that results in hypogonadotrophic hypogonadism and a consequent failure to start puberty.
Its characterised by a delay in puberty (in males) alongside a reduced or absent sense of smell (anosmia).
What is the pathophysiology of Kallman’s syndrome?
In Kallman’s syndrome, there is a defect in the migration of neurones within the olfactory placode in the brain.
These neurones include olfactory neurones (resulting in either hyposmia (=reduced smell) or anosmia (=no smell)).
The other neurones where there’s a failure of migration is Gonadotrophin Releasing Hormone (GnRH) Neurones. This results in a decrease in GnRH, which consequently means less LH and FSH (gonadotrophins) is produced. This therefore means that there is less function of the gonads (less testosterone production).
The low levels of both Gonadotrophins and testosterone in Kallman’s make this a cause of hypogonadotrophic hypogonadism.
What is the clinical presentation of Kallman’s syndrome?
It is characterised by a failure in development of both primary and secondary sex characteristics; alongside hyposmia / anosmia.
Primary Sex Characteristics
* Small penis and testes
* Improper testicular descent
* Low sperm count
Secondary Sex Characteristics
* Lack of facial hair
* Low muscle
* Lack of a deep voice
Extras
* Infertility
* Osteoporosis/osteopenia
What investigations are done to diagnose Kallman’s Syndrome?
Hormonal Blood Tests
* Low GnRH
* Low LH and FSH
* Low Testosterone
* Normal levels of other pituitary hormones
Genetic Testing
* For typical gene mutations associated with Kallman’s
Smell Test
Low Sperm Count
What is the management of Kallman’s Syndrome?
- Testosterone supplementation
- Gonadotrophin supplementation may result in sperm production if fertility is desired later in life
What hormones are produced from the anterior pituitary gland?
-
Growth hormone (GH)
Promotes growth and metabolism at various sites -
Prolactin
Stimulates breast tissue and induces lactation -
Gonadotrophins: luteinising hormone (LH) and follicle-stimulating hormone (FSH)
Stimulates the gonads to produce sex steroids (oestrogen, testosterone), promotes folliculogenesis and ovulation in females and spermatogenesis in males -
Thyroid stimulating hormone (TSH)
Stimulates thyroid glad to produce thyroid hormone production (T3 and T4) -
Adrenocorticotrophin (ACTH)
Stimulates the adrenal gland to produce cortisol
What hormones are released from the posterior pituitary?
-
Oxytocin
Causes uterine contraction in labour, promotes breastfeeding -
Vasopressin/anti diuretic hormone (ADH)
Acts on the kidney to reduce water excretion
What is the definition of pituitary adenomas?
Pituitary adenomas are the most common type of pituitary tumors, typically benign and non-secretory in nature (although there can be hormone producing variants)
What is the epidemiology of pituitary adenomas?
They can occur at any age, but are more frequently diagnosed in adults
What is the clinical presentation of pituitary adenomas?
Presentation often arises from local pressure effects on surrounding structures:
- Headache: Often persistent and localised to the front of the head.
- Visual Field Defects: Depending on the tumor’s location within the pituitary gland, patients may experience specific visual field defects, such as bitemporal hemianopia (loss of outer peripheral vision), due to pressure on the optic chiasm.
What investigations are done to diagnose a pituitary adenoma?
Diagnostic = Brain MRI
Others:
* Screening Tests for visual field defects
* Hormone Tests: If the tumor is suspected of being a functioning (hormone secreting) adenoma
What is the management of pituitary adenomas?
-
Neurosurgery
Trans-sphenoidal surgery is the primary treatment for pituitary adenomas. It involves accessing the pituitary gland through the sphenoid sinus to remove the tumor. -
Radiotherapy
In cases where complete tumor removal is not possible or when the tumor recurs after surgery, radiotherapy may be used to manage the residual tumor. -
Medications
Some functioning adenomas can be managed with medications that target hormone overproduction.
What are some complications of pituitary adenomas?
-
Hormonal Imbalances
Functioning adenomas can lead to various hormonal disorders. -
Recurrence
In some cases, adenomas may return after treatment and require further intervention. -
Surgical Risks
Surgery to remove the tumor carries inherent risks, including damage to surrounding structures and potential hormonal deficiencies.
What is the definition of a Prolactinoma?
Prolactinomas are pituitary tumors characterized by excessive production of prolactin.
What size would a prolactinoma be classed as a Microadenoma vs a Macroadenoma?
- Microadenomas (less than 10mm)
- Macroadenomas (greater than 10mm)
What is the epidemiology of prolactinomas?
Prolactinomas are the most common hormone-secreting tumors originating in the pituitary gland.
What is the clincial presentation of a prolactinoma?
Presentation varies by gender:
Women
* Oligomenorrhea or amenorrhea
* galactorrhea (breast milk production outside of pregnancy or breastfeeding)
* infertility
* vaginal dryness.
Men
* Erectile dysfunction
* reduced facial hair growth.
In Both Sexes
Tumor-related symptoms, such as headaches and visual field defects.
What investigations are used to diagnose a prolactinoma?
-
MRI Brain
Microadenomas appear as pituitary lesions, while macroadenomas present as space-occupying tumors within the pituitary region. -
Serum Prolactin
Elevated levels of prolactin in the blood are a key diagnostic marker.
What is the management of a prolactinoma?
Pharmacological:
* Dopamine Agonists (e.g. Cabergoline): These drugs reduce serum prolactin levels, alleviate galactorrhea, and restore gonadal function.
* Hormone Replacement Therapy: Used when fertility and galactorrhea are not primary concerns, typically involving estrogen replacement.
Surgery
* Trans-sphenoidal resection is indicated when medical treatment fails to manage the tumor effectively.
Radiotherapy
Reserved for cases where other treatments are unsuccessful.
What is the definition of hypopituitarism?
Hypopituitarism refers to a condition marked by the inadequate production of hormones by the pituitary gland.
This can encompass deficiencies in growth hormone, gonadotropins (FSH and LH), thyroid-stimulating hormone (TSH), adrenocorticotropic hormone (ACTH), and antidiuretic hormone (ADH).
What ae some causes of hypopituitarism?
- pituitary tumors
- surgery
- radiation therapy
- infections
- congenital disorders.
What is the clinical presentation of hypopituitarism?
It depends on what hormone is deficient:
Growth Hormone Deficiency
* central obesity
* dry skin
* reduced muscle strength
* decreased exercise tolerance.
FSH & LH Deficiency
In Females: Oligomenorrhea or amenorrhea, infertility, sexual dysfunction, and breast atrophy.
In Males: Infertility, sexual dysfunction, and hypogonadism.
TSH Deficiency
Results in hypothyroidism
ACTH Deficiency
Leads to adrenal deficiency:
* fatigue
* reduced muscle mass
* anorexia
* myalgia
* gastrointestinal upset.
ADH Deficiency (Diabetes Insipidus)
Causes excessive thirst and urination due to water imbalance.
What investigations are done for hypopituitarism?
- Hormonal Assays (to identify deficiencies in specific hormones)
- Brain MRI
- Functional tests to evaluate hormone responses
What is the management of hypopituitarism?
Hormone replacement therapy tailored to the specific hormonal deficiencies present.
What is a complication of hypopituitarism in children
Suboptimal growth
What is the definition of acromegaly?
A disorder caused by excess amounts of growth hormone with characteristic clinical features.
What is the definition of gigantism?
Gigantism is abnormal growth due to an excess of growth hormone (GH) during childhood
What is the difference between Acromegaly and Gigantism?
The key difference between gigantism and acromegaly is the age of onset.
Gigantism occurs before epiphyseal plate closure (which occurs during puberty), leading to excessive linear growth.
While acromegaly occurs after plate closure, causing enlargement of bones and soft tissues.
What is the pathophysiology of acromegaly/gigantism?
- Excess growth hormone (GH) results in excess production of insulin-like growth factor 1 (IGF-1)
- The IGF-1 receptor is distributed on a wide variety of tissues, and excess stimulation results in excess growth of these tissues
- Excess growth hormone also results in increased gluconeogenesis, lipolysis, and insulin resistance
What is the the clinical presentation of gigantism?
Exessive Linear Growth making the child extremely large for his or her age. Other symptoms can include:
* Delayed puberty
* Visual difficulties
* Very prominent forehead (frontal bossing) and a prominent jaw
* Gaps between the teeth
* Headache
* Increased sweating
What are the Growth hormone releasing hormone (GHRH) independent causes of gigantism?
-
Pituitary adenoma
(by far the commonest cause), and can either be sporadic or associated with certain syndromes (e.g. Multiple Endocrine Neoplasia Syndrome Type 1) -
Primary pituitary hyperplasia
(less common), and can again be sporadic or associated with certain syndromes (e.g. McCune-Albright Syndrome)
What are the Growth hormone releasing hormone (GHRH) dependent causes of gigantism?
-
Hypothalamic source
excess GHRH from the hypothalamus causes a secondary pituitary hyperplasia -
Ectopic GHRH release
excess GHRH from ectopic tissue causes a secondary pituitary hyperplasia
What investigations are done for gigantism?
- 1st Line = Insulin-like growth factor 1
- If IGF1 is raised then glucose tolerance test is used to confirm the diagnosis (where there’ll be a failure of suppression of growth hormone)
- Head MRI to check for pituitary tumour
What is the management of gigantism?
Surgical
* 1st Line is transphenoidal resection of the pituitary adenoma +/- radiotherapy
* Transfrontal resection of the pituitary is another way to remove tumours
Medical ( if surgery is contraindicated or the mechanism is not due to a pituitary adenoma)
* Somatostatin analogues (octreotide, lanreoride), which suppress growth hormone release (first line medical treatment)
* Growth hormone antagonists (pegvisomant)
* Dopamine agonists (bromocriptine, cabergoline)
What is the definition of cushing’s syndrome?
It is an endocrine disorder characterized by excess glucocorticoids, often resulting in distinctive clinical symptoms and signs.
What is the definition of cushing’s disease?
This specifically refers to a glucocorticoid excess caused by an adrenocorticotropic hormone (ACTH)-secreting pituitary tumour.
What is the epidemiology of cushing’s syndrome?
More common in adults (although it can still occur in children)
More common in females
What are the causes of cushing’s?
-
ACTH-dependent disease
This is caused by excessive production of ACTH, most often due to a pituitary tumor (Cushing’s disease) or ectopic ACTH-producing tumors (e.g. lung carcinoids, thymic carcinoids, and others). -
ACTH-independent
This arises from primary adrenal diseases, such as adrenal adenomas or adrenal carcinomas, which produce excess cortisol independently of ACTH stimulation. Exogenous steroids can also cause ACTH-ibdependent Cushing’s.
What is the clinical presentation of cushing’s?
- Striae and easy bruising
- Glucose intolerance or diabetes mellitus
- Obesity, particularly truncal or “centripetal” obesity
- Facial changes, such as moon face and acne
- Fat redistribution leading to interscapular and supraclavicular fat pads
- Thin extremities due to muscle wasting
- Thin, fragile skin
- Fractures and osteoporosis
- Psychological issues, like depression or cognitive dysfunction
What are some differentials of cushing’s?
Metabolic syndrome
Polycystic ovary syndrome
Adrenal insufficiency
Alcohol excess
Depression.
What investigations are done for cushing’s?
Biochemical evidence of cortisol exess:
* 24-hour urinary free cortisol test
* Low-dose Dexamethasone suppression test
Localisation of source:
* Plasma ACTH levels to distinguish between ACTH-dependent and independent causes
* High-dose dexamethasone suppression test for suspected Cushing’s disease
* MRI of the pituitary and/or CT of chest and abdomen for tumor localization
What do the different results of the Dexamethasone suppression tests indicate?
- Cortisol not suppressed by low dose - Cushing’s syndrome (e.g. exogenous steroid use)
- Cortisol not suppressed by low dose but suppressed by high dose - Cushing’s disease (pituitary source)
- Cortisol not suppressed by low dose or by high dose – ectopic ACTH (not under axis control, likely ACTH-producing tumour)
What is the management of Cushing’s?
Medical to decrease cortisol levels is 1st line
* Metyrapone (an inhibitor of cortisol synthesis)
* Ketoconazole (an adrenolytic agent)
* Mifepristone (a glucocorticoid receptor antagonist)
* Pasireotide (a somatostatin analog)
Surgical
* Resection of the pituitary tumor is the treatment of choice for Cushing’s disease (often after initial control of hypercortisolaemia with medical therapy)
Radiotherapy
* May be considered for cases where hypercortisolaemia persists post-surgery, or in cases where surgery is not possible or declined.
Successful treatment of Cushing’s disease leads to cortisol deficiency and subsequently, steroid replacement post-operatively is essential.
What is the definition of Congenital Adrenal Hyperplasia (CAH)?
Congenital Adrenal Hyperplasia (CAH) represents a collection of autosomal recessive disorders characterised by impaired steroid hormone synthesis within the adrenal cortex due to enzyme defects.
What is the most common type of genetic defect causing CAH?
A deficiency in 21-hydroxylase
An enzyme critical for the production of the glucocorticoids and mineralocorticoids, cortisol and aldosterone.
a deficiency of 11-beta-hydroxylase (is the issue in a small number of cases)
What is the pathophysiology of congenital adrenal hyperplasia?
21-hydroxylase is the enzyme responsible for converting progesterone into aldosterone and cortisol. Progesterone is also used to create testosterone, but this conversion does not rely on the 21-hydroxylase enzyme.
In CAH, there is a defect in the 21-hydroxylase enzyme. Therefore, because there is extra progesterone floating about that cannot be converted to aldosterone or cortisol, it gets converted to testosterone instead.
The result is a patient with low aldosterone, low cortisol and abnormally high testosterone.
What is the clinical presentation of severe CAH?
Female patients present with virilised genitalia, also known as “ambiguous genitalia” and an enlarged clitoris.
Patients present shortly after birth with hyponatraemia, hyperkalaemia and hypoglycaemia causing symptoms like:
* Poor feeding
* Vomiting
* Dehydration
* Arrhythmias
What is the clinical presentation of less severe CAH?
Patients who are less severely affected present during childhood or after puberty. Their symptoms tend to be related to high androgen levels.
In Females:
* Tall for their age
* Facial hair
* Absent periods
* Deep voice
* Early puberty
In Males:
* Tall for their age
* Deep voice
* Large penis
* Small testicles
* Early puberty
Why is skin hyperpigmentation a common symptom of mild Congenital adrenal hyperplasia?
Hyperpigmentation occurs because the anterior pituitary gland responds to the low levels of cortisol by producing increasing amounts of ACTH.
A byproduct of the production of ACTH is melanocyte simulating hormone. This hormone stimulates the production of melanin (pigment) within skin cells.
What investigations are done for congenital adrenal hyperplasia?
- Blood tests: Specific hormone assays such as 17-hydroxyprogesterone, cortisol, and ACTH levels. Elevated 17-hydroxyprogesterone and ACTH with low cortisol suggest CAH.
- Genetic testing: Can confirm the diagnosis and identify the specific enzyme defect.
- Imaging: (e.g.ultrasound) can help in the assessment of internal sex organs in patients with ambiguous genitalia.
What is the management of congenital adrenal hyperplasia?
Acute treatment
* Fluid and sodium replacement with intravenous saline (if salt-wasting)
* administration of hydrocortisone for its glucocorticoid and mineralocorticoid effects.
Long-term treatment
Lifelong hormone replacement therapy, typically with hydrocortisone and fludrocortisone as needed.
Surgical intervention
In virilised females, genital surgery may be necessary to correct external genital abnormalities.
Patient education
Those dependent on steroids should be educated about the critical importance of adhering to their medication regimen and following ‘sick day’ rules.
What is the definition of androgen insensitivity syndrome?
Androgen insensitivity syndrome is a condition where cells are unable to respond to androgen hormones due to a lack of androgen receptors in males.
This means there is extra androgens which are converted into oestrogen, resulting in female secondary sexual characteristics.
It was previously known as testicular feminisation syndrome.
What casues androgen insensitivity syndrome?
An X-linked recessive genetic mutation in the androgen receptor gene on the X chromosome.
What secondary sexual characteristics do patients with androgen insensitivity syndrome present with?
Patients are genetically male, with XY sex chromosome. However, the absent response to testosterone and the conversion of additional androgens to oestrogen result in a female phenotype externally.
Typical male sexual characteristics do not develop, and patients have normal female external genitalia and breast tissue.
Why don’t male patients with androgen insensitivity syndrome develop internal female organs?
As their testes (which are located in abdomen or inguinal canal) still produce anti-müllerian hormone which prevents the development of the upper vagina, uterus, cervix and fallopian tubes.
How do patients with androgen insensitivity syndrome often present clinically?
It either presents in infancy with inguinal hernias containing testes.
Or it presents at puberty with primary amenorrhoea.
What are the hormone blood test results of someone with androgen insensitivity syndrome?
- Raised LH
- Normal or raised FSH
- Normal or raised testosterone levels (for a male)
- Raised oestrogen levels (for a male)
What is the management of androgen insensitivity syndrome?
- Bilateral orchidectomy (removal of the testes) to avoid testicular tumours
- Oestrogen therapy
- Vaginal dilators or vaginal surgery can be used to create an adequate vaginal length
Generally, patients are raised as female, but this is sensitive and tailored to the individual. They are offered support and counselling to help them understand the condition and promote their psychological, social and sexual wellbeing.
What are the complications of androgen insensitivity syndrome?
- Patients are infertile
- There is an increased risk of testicular cancer unless the testes are removed.
What is the definition of anaemia (in children)?
Its defined as a low level of haemoglobin in the blood
(below the age (and sex-) specific normal ranges.)
What are the normal ranges of haemoglobin levels for children?
- Birth - 150 – 235 grams/litre
- 2 – 4 weeks - 135 – 190 grams/litre
- 4 – 8 weeks - 95 – 130 grams/litre
- 2 months – 6 years - 110 – 140 grams/litre
- 6 – 12 years- 115 – 155 grams/litre
- Female age 12 – 18 - 120 – 160 grams/litre
- Male aged 12 – 18 - 130 -160 grams/litre
What is the MCV (Mean corpuscular volume) for microcytic, normocytic and macrocytic anaemia?
- Microcytic anaemia <80
- Normocytic anaemia 80 - 100
- Macrocytic anaemia > 100
What is the most common cause of anaemia in infancy?
Physiologic Anaemia of Infancy
There is a normal dip in haemoglobin around six to nine weeks of age in healthy term babies. High oxygen delivery to the tissues caused by the high haemoglobin levels at birth cause negative feedback.
Production of erythropoietin by the kidneys is suppressed and subsequently there is reduced production of haemoglobin by the bone marrow. The high oxygen results in lower haemoglobin production.
What is the characteristic appearence of an osteosarcoma on XRay?
New bony growth with a periosteal reaction causing a sunburnt appearance.
How is Perthes Disease diagnosed?
The main diagnostic test is a hip X-ray; which will show:
- Sclerosis and fragmentation of the epiphysis
In some cases, initial X-rays may appear normal, necessitating a repeat X-ray if clinical suspicion persists
What is the diagnostic test for SUFE?
Anterolateral and frog-leg X-rays
These can reveal characteristic features such as a shortened, displaced epiphysis and a widened growth plate.
Other tests to aid in diagnosis:
* Blood tests (normal inflammatory markers)
* Technetium bone scan
* CT and MRI scan
What is measured in the APGAR score?
Its measured out of 10
