What is the treatment plan for primary hyperparathyroidism?
- Conservative fluids
- Medical options are under trail
- Surgery if meet criteria
What is the function of calcitonin?
It lowers the blood calcium levels and blood phosphate levels
Where in the brain is adrenocorticotropic hormone (ACTH) produced?
What are the symptoms of Addison's Disease?
- Weight loss and anorexia
- Depression or confusion
- Loss of body hair
- Impotence or amenorrhea
- Syncope and postural hypotension
What is the treatment for malignant hypercalcaemia?
- Tumour ablation
- IV fluids
- Frusemide; taken with care
What is Cushing's Syndrome?
It is a set of symptoms associated with prolonged elevated levels of cortisol
What are the investigations performed for the diagnosis of primary hyperparathyroidism?
- Serum PTH
- Hypercholaemic acidosis
- Renal function; urea and creatinine
- 24 hour urinary calcium
- Elevated serum alkaline phosphatase
- Bone density scans
- Ultrasound of kidneys
What is it in Addison's Disease that causes the hyperpigmentation?
Elevated levels of ACTH
What is the treatment of an Addisonian Crisis?
- Fluid correction
What is the most common cause of primary hyperaldosteronism in females?
Adrenal adenomas (Conn's syndrome)
What are the treatment options for Conn's syndrome?
- Laparoscropic removal of adenoma
- Low sodium diet
- Spironolactone if hyperplasia
What are the 4 main types of hormones?
- Peptides and proteins
- Amino acid derivatives
- Fatty acid derivatives
How can severe magnesium deficiency affect the parathyroid glands?
It can paralyse them preventing the secretion of PTH
What are the major causes of hypercalaemia?
- Primary hyperparathyroidism
- Milk-alkali syndrome
- Over-ingestion of Vit D
What is the main treatment of male androgen deficiency?
- Testosterone replacement therapy
- Gonadotrophin replacement if sencondary hypogonadism
- Type 5 phosphodiesterases for penile dysfunction
What are the criteria for referral to surgery for primary hyperparathyroidism?
- Creatinine clearance < 60ml/min
- Under 50 years old
- Serum calcium > 0.25mmol over normal range
- BMD -2.5 or less at any site
- Previous fragility fracture
What type of condition does Albright's hereditary osteodystrophy cause?
What investigations are performed to diagnose Addison's Disease?
- Single cortisol measurement
- Short or long ACTH stimulation test
- 9am ACTH level
- U & E's including glucose
- Adrenal antibody test
- CXR, AXR
- Serum aldosterone
What hormones are normally secreted by a phaeochromocytoma?
What are the functions of cortisol?
- Help control blood glucose levels between meals
- Increase amino acids levels in the blood
- Promotes fat utlisation for energy
- Stimulates liver to synthesise glucose via gluconeogenesis
How does PTH alter Ca2+ and PO4 levels?
- It causes their release from bone by increasing osteoclast activity
- It causes the kidneys to increase PO4 excretion
- It increases Vitamin D production, thereby increasing dietary Ca2+ absorption
What is the most common cause of hypoparathyroidism?
Surgery on the neck that either removed the parathyroids or destroyed them
What must be present for the production of T3 and T4?
Which one, T3 or T4, or more effective and which is more abundant?
T3 - more effective
T4 - more abundant
What are the biochemical effects of an increased PTH level?
- Increased calcium in serum and urine
- Decreased phosphate in serum, but elevated in urine
- Increased chloride
- Decreased bicarbonate
What molecule increases intracellularly when ACTH binds to its receptor?
What are the symptoms of Cushing's syndrome?
- Rapid weight gain and "moon-face"
- Severe muscle wasting
- Predisposition to diabetes
- Hair growth (Hirsutism)/ acne
What are the clinical signs of a phaeochromocytoma?
- Orthostatic hypotension
What of the symptoms of symptomatic hyperparathyroidism?
- Renal stones/ colic
- Nausea and vomiting
- Bradycardia and heart block
- Corneal calcification
What are the treatment options for phaeochromocytoma?
- Alpha blockade with phenoxybenzamine
- Then beta blockade with propanolol
- Surgery following these procedures
What is the long term treatment options for Addison's Disease?
- Replacement glucocorticoid (hydrocortisone or prednisolone)
- DHEA may be beneficial
What 2 molecules can trigger the secretion of aldosterone?
- Angiotensin II
What 2 amines are secreted from the adrenal medulla?
What is Addisonian Crisis?
It is a collection of symptoms caused by Addison's Disease and can be fatal:
- Acute hypotension
What are the symptoms of male androgen deficiency occuring in adults?
- Small or absent testes
- Infertility/ sexual dysfunction
- Small prostate
- Reduced hair growth
How many patients develop tetany post-operatively following removal of the parathyroids?
What is the most common cause of primary hypoadrenalism in Western countries?
Anti 21-hydroxylase antibodies are produced and destroy the adrenal cortex
What are the symptoms of DiGeorge syndrome?
- Cleft lip
- Abnormal facies
- Cardiac defects
- Immune deficiency
Name one of the glucocorticoids
What are the causes of primary hyperparathyroidism?
- Single parathyroid adenoma
- Diffuse hyperplasia of all the glands
- Multiple parathyroid ademonas are a rare cause
What are the treatment options for hypocalcaemia?
- Cholecalciferol for Vit D deficiency
- Oral calcium supplements
What is the main symptom of male androgen deficiency at puberty?
The development of eunuchoid body proportions
What are the symptoms of a phaeochromocytoma?
- Anxiety & panic attacks
- Raynaud's phenomenon
- Nausea and vomiting
What are the investigations to confirm Cushing's Syndrome?
- 48 hour low dose dexamethasone test
- 24 hour urinary free cortisol measurements
- Circadian rhythm
What are the symptoms of Klinefleter's?
- Intellectual dysfunstion
- Behavioural problems
- Tall stature, with reduced muscle mass
What is Addison's Disease?
It is a primary adrenocortical insufficiency
There is reduced levels of cortisol leading to increased CRH and ACTH
What is the most common cause of primary hyperaldosteronism overall?
Conn's syndrome (adrenal adenoma)
What are the causes of Cushing's Syndrome?
- Cushing's Disease
- Ectopic ACTH
- ACTH source unknown
- Macronodular hyperplasia
- Adrenal adenoma
- Adrenal carcinoma
What is the function of T3 and T4?
Control of metabolic processes:
- Break down carbohydrates and fats
- Synthesis proteins
What is the most common cause of congenital adrenal hyperplasia?
What separates pseudo-pseudohypoparathyroidism from pseudohypoparathyroidism?
Pseudo-pseudohypoparathyroidism has similar bone deformities but there is normal biochemistry
Name one of the mineralcorticoids
What molecule is mutated in psuedo-pseudohypoparathyroidism?
The GNAS gene
What hormones does the thyroid gland produce?
What is the most common cause of primary hypoparathyroidism?
Chronic kidney disease
What 2 factors are involved in the regulation of ACTH release?
- Corticotropin-releasing factor (CRF)
What investigations are performed for diagnosing a phaeochromocytoma?
- Measurement or urinary catecholamines
- Resting plasma catecholamines
- Plasma chromogranin A
- Clonidine suppression test
- MIBG scan
- Genetic testing
What investigations are performed in priamry hyperadosteronism?
- Plasma aldosterone:renin ratio
- Plasma aldosterone levels
- Plasma renin levels
- CT/ MRI
- U & E's -> for K+ levels
What is a phaeochromocytoma?
A tumour of the sympathetic nervous system that secrete catecholamines
What molecule are steroid hormones dervived from?
Which enzyme does Metyrapone inhibit?
What is hungry bones syndrome?
- Avid uptake of calcium and phosphate by the bones
- The parathyroids cannot compensate the deranged levels
- Causes symptoms of hypoparathyroidism, namely hypocalcaemia
Who is most likely to have primary hyperparathyroidism?
Women aged over 60
What are the symptoms of hypoparathyroidism?
- Circum-oral numbness
What other medical conditions are associated with a phaechromocytoma?
- Multiple Endocrine Neoplasia (MEN) type 1, 2a or 2b
- Von-hippel-Lindau syndrome
- Tuberose sclerosis
- Struge-Weber syndrome
What is the most common cause of primary hyperaldosteronism in males?
Bilateral adreanl hyperplasia
What groups of hormones does the adrenal cortex secrete and which part of the cortex secretes which?
- Mineralocorticoids - Outer layer
- Glucocorticoids - Middler layer
- Sex hormones - Inner layer
What 2 groups of hormones are dervived from tyrosine?
- Thyroid hormones
What are the treatment options for Cushing's Syndrome?
- Pituitary or adrenal surgery
- Oncology therapy
Ketoconazole can also be used with Metyrapone
What are the clinical presentations of primary hyperaldosteronism?
- Muscle wasting
- Cardiac and retinal damage
What are the effects of primary hyperaldosteronism?
- Sodium retention
- Potassium loss leading to hypokalaemia
What investigations are carried to test for hypoparathyroidism?
- Serum urea and creatinine
- PTH levels in serum
- Parsathyroid antibodies
- Vit D levels
- Magnesium levels
- X-ray of metacarpals
What are the causes of primary hyperalsosteronism?
- Adrenal ademona (Conn's syndrome)
- Adrenal hyperplasia
- Adrenocortical cancer
What type of hypogonadism does Kallmann's syndrome present with?
What are the complications of Cushing's Syndrome?
- Myocardial infarction
- Heart failure
What are possible complications following surgery for primary hyperparathyroidism?
- Hungery bone syndrome
How many live births per year are affected by a 21-hydroxylase deficiency?
15,000 births per year
What are the clinical maneestations of congenital adrenal hyperplasia?
- Adrenal failure Addison like symptoms
- Clitoral hypertrophy
- Precocious puberty with hirsutism
What syndrome is associated with parathyroid carcinomas?
Hyperparathyroidism-jaw tumour syndrome
What are the symptoms of Albright's hereditary osteodystrophy?
- Short stature
- Round face
- Short neck
- Shortened metacarpals
- Subcutaneous ossifications
- Reduced intelligence
- Dimpled knuckle when fist is formed
What is Aldosterone's function?
Regulates mineral electrolyte levels in the blood (Na+ & K+)
How does a 21-hydroxylase deficiency lead to adrenal hyperplasia?
- It causes a decrease in cortisol secretion
- This leads to increased levels of ACTH through feedback mechanisms
- This causes hyperplasia of the adrenals to maintain normal coritsol levels
What is the incidence of Addison's disease?
3-4 per million/year
What is the function of PTH?
Increases blood calcium levels and decreases blood phosphate levels
What is DiGeorge syndrome?
It is a genetic disorder causing neonatal hypoparathyroidism
What is the most common cause of hypercalaemia?
What are the common causes of hypocalcaemia?
- Chronic kidney disease
- Hypoparathyroidism; DiGeorge's syndrome
- Rickets/ Osteomalacia
- Drugs such as bisphosphonates
- Acute pancreatitis
Describe Klinefelter's syndrome?
- Most common cause of male hypogonadism
- Caused by extra X chromosomes
- Typically 47 XXY
What are the causes of malignant hypercalcaemia?
Squamous cell tumours of the lung or breast with bone metastases
What are the symptoms of hypocalcaemia/ hypoparathyroidism?
- Organic brain syndrome
- Calcification of basal ganglia
Which decades of life do phaeochromocytomas usually present?
4th and 5th decade of life
What is the treatment plan for congential adrenal hyperplasia?
- Cyproterone acetate
What happens to the adrenal cortex in Addison's disease?
The entire adrenal cortex is destroyed
How does primary and secondary hypogonadism differ?
- Low testosterone
- Elevated FSH and LH
- Low testosterone
- Low or normal FSH and LH