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Endocrinology Flashcards

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1
Q

Define Congenital Adrenal Hyperplasia (CAH).

A

Most common non-iatrogenic cause of low cortisol and MR secretion.

  • Incidence → 1 in 17,000 births
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2
Q

How many forms of CAH are there?

A
  • Multiple forms of CAH – 90% are a deficiency of 21-hydroxylase enzyme → autosomal recessive
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3
Q

What are the signs and symptoms of CAH?

A
  • Virilisation of external genetalia - more obvious in girls
    • Female infants → clitoromegaly, fusion of labia
    • Male infants → enlarged penis and scrotum pigmented - hard to spot
  • Addisonian Crisis - often the 1st sign in boys
    • Week 1 to 3 of age
    • Vomiting
    • Weight loss
    • Hypotonia
    • Circulatory collapse
  • Tall → occurs in 20% of “non-salt losers”
    • Presenting at puberty = smallest in class after being tallest
  • Excess androgens
    • Muscular build
    • Adult body odour
    • Pubic hair
    • Acne
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4
Q

What are the appropriate investigations for suspected CAH?

A
  • Initial - Ambiguous genetalia, no external gonads → USS
  • Confirmatory (CAH) → raised plasma 17a-hydroxyprogesterone - cannot do in a newborn → mother’s levels will obscure reading
    • Other confirming tests
      • Karyotyping
      • High urea (dehydrated)
      • Beta-hCG
  • Biochemical abnormalities → FBC, U&Es
    • Addisonian crisis → low sodium, high potassium
    • Metabolic acidosis → low bicarbonate
    • Hypoglycaemia → low glucose from low cortisol
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5
Q

What is the management of CAH?

A
  • Corrective surgery – for affected females on the external genetalia
    • Suggested girls are raised as girls → have ovaries and uterus
    • Definitive surgery often delayed until early puberty
  • Long-term management
    • Life-long glucocorticoids = Hydrocortisone → suppress ACTH levels (and hence testosterone)
    • Mineralocorticoids = Fludrocortisone → if there is salt loss
    • Monitoring
      • Growth
      • Skeletal maturity
      • Plasma androgens
      • 17a-hydroxyprogesterone levels
    • Additional hormone replacement at times of illness or surgery - i.e. double hydrocortisone
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6
Q

What is the management of an Addisonian crisis?

A
  • IV hydrocortisone
  • IV saline
  • IV dextrose
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7
Q

What are the signs of neonatal hypoglycaemia?

A

Jittery and Hypotonic baby

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8
Q

What are the risk factors for neonatal hypoglycaemia?

A
  • IUGR
  • Maternal DM
  • Prematurity
  • Hypothermia
  • Neonatal sepsis
  • Inborn errors of metabolism
  • Labetalol - pre-eclampsia
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9
Q

What are the signs and symptoms of diabetes in a child?

A
  • Early signs – often occur over a few weeks
    • Most common ‘classical triad’
      • Polydipsia
      • Polyuria
      • Weight loss
    • Less common
      • Secondary enuresis
      • Skin sepsis
      • Candida (and other infections)
    • Type-2 specific
      • Acanthosis nigricans - ‘tanning’ in skin fold = insulin resistance
      • Skin tags
      • PCOS
  • Hypoglycaemia - after insulin
    • Sweating
    • Pallor
    • CNS irritability
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10
Q

What are the signs and symptoms of DKA in a child?

A
  • Kussmaul breathing
  • Acetone breath
  • Vomiting
  • Dehydration
  • Abdominal pain
  • Hypovolaemic shock
  • Drowsiness
  • Coma and death
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11
Q

What are the signs of hypoglycaemia in a child?

A
  • After insulin
    • Sweating
    • Pallor
    • CNS irritability
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12
Q

What are the appropriate investigations for suspected diabetes mellitus in a child?

A
  • Symptoms = Fasting ≥7.0mmol/L OR Random ≥11.1mmol/L
  • No symptoms
    • Fasting ≥7.0mmol/L AND Random ≥11.1mmol/L
    • OGTT ≥11.1mmol>L
  • HbA1c >6.5% / >48mmol/mol
  • Whole blood fasting plasma glucose ≥6.1mmol/L
  • Impaired Glucose Tolerance
    • Fasting = <7.0 mmol/L
    • OGTT = 7.8-11.1 mmol/L
  • Impaired Fasting Glucose – only if fasted:
    • Fasting = 6.1-7.0 mmol/L
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13
Q

What are the apporpriate investigations for suspected hypoglycaemia in a child?

A
  • Blood glucose
  • Growth hormone
  • IGF-1
  • Cortisol
  • Insulin
  • C-peptide
  • Fatty acids
  • Ketones
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14
Q

What is the management of T1DM in a child?

A
  • Insulin
    • 3 types of insulin therapy
      • 1st line = Multiple Daily Injection Basal-Bolus - injections of short-acting insulin before meals, with 1 or more separate daily injections of intermediate acting insulin or long-acting insulin analogue
      • 2nd line = Continuous SC Insulin Infusion (insulin pump) - regular or continuous amounts of insulin (usually rapid/short- acting insulin) → child must be older and in control of diabetes
      • One, Two or Three Insulin Injections Per Day - injections of short-acting insulin or rapid-acting insulin analogue mixed with intermediate-acting insulin
  • MDT management → paediatrician, PDSN (specialist nurse), psychologist, school, (GP)
  • Educational programme for parents and child
    • Basic pathophysiology of diabetes → body attacking its own pancreas → depleted ability to produce insulin
    • Insulin injection method and sites
      • Types of insulin
        • Long acting → Glargine, Determir
        • Short acting → Lispro, Glulisine, Aspart
      • Sites = antero-lateral thigh, buttocks, abdomen
        • Rotate sites frequently to avoid lipohypertrophy
      • Method = gently pinch up skin and inject at a 45-degree angle, not too deep (IM) nor shallow
    • Blood glucose prick monitoring
      • ≥5 capillary blood glucose a day
        • Fasting = 4-7mmol/L
        • After meals = 5-9
        • Driving = >5
      • Ongoing real-time continuous monitoring with alarms
      • HbA1c checked ≥4x per year
    • Healthy diet and exercise
      • Carbohydrate counting education from diagnosis and to family members (DAFNE)
      • 5 fruit and vegetables a day
      • Regular exercise (with insulin adjustment)
    • ‘Sick-day rules’ during illness - prevent DKA
    • Recognition of DKA and hypoglycaemia
      • DKA = Nausea/vomiting, Abdominal pain, Hyperventilation, Dehydration, Reduced consciousness
      • Hypoglycaemia = varies → Feeling ‘wobbly’ or generally unwell → manage with sugary food
      • Check blood ketones when ill or hyperglycaemic
  • Annual monitoring - from 12yo
    • Diabetic retinopathy
    • Diabetic nephropathy
    • Hypertension
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15
Q

What are the indications for ongoing real-time continuous monitoring with alarms in children?

A
  • Frequent severe hypoglycaemia
  • Impaired hypoglycaemic awareness
  • Inability to recognise/relay symptoms of hypoglycaemia (i.e. cognitive disability)
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16
Q

What are the causes of DKA?

A
  • Anything to raise the bodies need for insulin
    • Discontinuation / Not enough insulin
      • Anorexic T1DM that want to lose weight
    • Drugs → steroids, thiazides, SGLT-2 inhibitors
    • Physiological stress → pregnancy, trauma, surgery
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17
Q

What are the appropriate investigations for suspected DKA?

A
  • Blood gases
  • Blood glucose
  • Plasma osmolarity → will be hyper-osmolar
    • Like in HHS but is much higher in HHS
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18
Q

What is the management of hypoglycaemia?

A
  • Treating this depends upon the patient’s consciousness
    • Oral glucose - e.g. Coca-Cola → banana
    • Glucose gel to gums / IM glucagon
    • IV glucose - dextrose - remember dextrose is hypertonic
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19
Q

How is diabetes management complicated in adolescence?

A
  • Teenagers are more resistant to treatment → find out they don’t have to obey parents
  • Interference:
    • Biological factors
      • Insulin resistance secondary to growth and sex hormone secretion
      • Growth and pubertal delay if diabetes control is poor
    • Psychological factors
      • Reduced self-esteem (i.e. impaired body image)
    • Social factors:
      • Different from peer group
      • Hypoglycaemia (emphasise differences)
      • Increased risk from alcohol, smoking, drugs
      • Vocation plans → can’t be a pilot
      • Separation from parents more complex
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20
Q

What are the signs and symptoms of HHS?

A
  • Weakness
  • Leg cramps
  • Visual disturbances
  • N&V (less than in DKA)
  • Massive dehydration
    • Dry membranes
    • Confusion
    • Lethargy
  • Focal neurological symptoms → seizures in up to 25% → coma in up to 10%
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21
Q

What are the appropriate investigations for suspected HHS?

A
  • Bloods/ABG → no hyperketonaemia, no acidosis
  • Serum osmolarity = >320mOsmol/kg (normal 275-295)
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22
Q

What is the appropriate management of T2DM in a child?

A
  1. Diet & exercise
  2. Oral monotherapy = metformin
  3. Oral combination
    1. Sulphonylurea – non-obese T2DM
    2. a-glucosidase inhibitor – for post-prandial hyperglycaemia
  4. Oral + Injectable incretin mimetics
  5. Oral + Low-dose Insulin
  6. Insulin
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23
Q

Define DKA.

A
  • Diagnosis
    • Diabetes = BM > 11.1mmol/L
    • Ketones = >3
    • Acidosis = pH <7.3
  • DKA definition
    • Metabolic acidosis → acidosis + bicarbonate of <15mmol/L
    • OR
    • Metabolic acidosis → pH <7.3 + ketones >3.0mmol/L
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24
Q

What is the management of DKA?

A
  • Emergency Management
    • ABCDE
    • Emergency fluid resuscitation
      • Shocked = 20mL/kg bolus (over 15 minutes) → 10mL/kg bolus if required (max 40mL/kg)
      • Not shocked = 10mL/kg bolus (over 60 minutes)
    • Investigations (i.e. blood glucose, FBC, U&Es, blood gas, ketones) + Full clinical assessment (inc. weight, GCS)
  • Fluid management
    • Deficit = deficit x weight x 10 → replace over 48 hours
      • Mild DKA = pH <7.3 → 5% fluid deficit
      • Moderate DKA = pH <7.2 → 7% fluid deficit
      • Severe DKA = pH <7.1 → 10% fluid deficit
    • Maintenance requirement = 4-2-1 method
  • Insulin / dextrose therapy
    • After 1-2 hours of IV fluid replacement
      • Insulin Dose = IV 0.05-0.1 units/kg/hour
        • Start dextrose when <14mmol/L → SC insulin → oral fluids if child starts to resolve
        • Monitor with ECG to identify hypokalaemia
  • Monitoring during therapy – every hour or 30 minutes if severe DKA or child <2yo
    • Hourly → capillary glucose, vital signs, fluid balance, GCS, ± ECG
    • Every 4 hours → glucose, U&Es, blood gas, beta-hydroxybutyrate
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25
What are the complications of DKA?
* Cerebral oedema - *25% mortality* * Hypokalaemia * Aspiration pneumonia * Inadequate resuscitation
26
What are the signs and symptoms of cerebral oedema?
* **Cushing’s triad of ICP** * **Bradycardia** * **Hypertension** * **Irregular breathing** * Headache * Agitation / Irritability * Other signs of ICP * Low GCS * Oculomotor (III) palsies * Pupillary inequality or dilatation
27
What is the management of cerebral oedema?
* Mannitol or hypertonic saline * Restrict fluid intake
28
What is the management of hypokalaemia in the context of diabetes/DKA?
Stop insulin → causes K+ excretion
29
What is the most common cause of growth disorder in boys?
Constitutional Delay of Growth and Puberty
30
What constitutes faltering growth warranting referral?
* If ≥75th centile → **drops ≥3%** * 25th-75th centile → **drops by ≥2%** * \<25th centile → **drops by ≥1%**
31
Define Delayed Puberty.
* Absence of pubertal development * Males * No testicular development (volume ≤4mL) by age 14 years * Females * No breast development by age 13 years OR * No periods by age 15 years
32
What are the signs and symptoms of constitutional delay of growth and puberty?
* Low bone age * No puberty signs * No organic causes * **FHx →** M \> F - usually FHx of same delay in parent of same sex
33
What are the causes of delayed puberty?
* **Constitutional delay of growth and puberty** * **Chronic disease** * **Malnutrition** * **Psychiatric** * Excessive exercise * Anorexia nervosa * Depression * **Hypogonadotrophic** **hypogonadism -** *low LH and FSH* * Hypothalamo-pituitary disorders → panhypopituitarism, intercranial tumours * Kallmann’s syndrome - *LHRH deficiency and anosmia* * Prader-Willi syndrome * Hypothyroidism (acquired) * **Hypergonadotrophic hypogonadism** - *high LH and FSH* * Congenital → cryptorchidism, Klienfelter’s syndrome, Turner’s syndrome * Acquired → testicular torsion, chemotherapy, infection, trauma, autoimmune
34
What are the appropriate investigations for delayed puberty?
* Initial examination * **Charting** → height and weight plots, mid-parental height - note dysmorphic features * **Prader’s orchidometer** (see picture) - for boys * **Tanner’s staging** - for girls * Bloods * **LH and FSH levels** (GnRH stimulation given if \<12yo) → g*onadotrophin-dependant vs independent* * **TSH** * **Prolactin** * **Testosterone** * Imaging * **Bone age** (from wrist X-ray) * **MRI brain** * **Karyotyping**
35
What is the management of delayed puberty?
* **CDGP = most do not need treatment → fantastic prognosis]:** * 1st line = reassure and offer observation * 2nd line = short course sex hormone therapy * Boys → short course IM testosterone (every 6 weeks for 6 months) * Girls → transdermal oestrogen (6 months) → cyclical progesterone once established * Primary testicular / ovarian failure = **Pubertal induction → regular hormone replacement** * Boys = regular testosterone injections * Girls = gradual oestrogen replacement *(gradual to avoid premature fusion of epiphyses / overdeveloped breasts)* * **Psychiatry input to address psychosocial concerns**
36
What is the difference between early normal puberty and precocious puberty?
* Early normal puberty * Girls = 8 \< age ≤ 10 * Boys = 9 \< age ≤ 12 * Precocious puberty * Girls = age \<8yo * Boys = age \<9yo
37
How is puberty defined?
* **Girls = Breast development** - Tanner’s 5 breast development * Stage 1 = flat * Stage 2 = buds appear, breast and nipple raised, fat forms, areola enlarges * Stage 3 = breasts grow larger - conical → rounder shape * Stage 4 = nipple and areola raise above mound menstruation within 2 years of this stage * Stage 5 = mature adult breast is rounded, and only nipple is raised * *Order of Onset in Girls = Boobs, Pubes, Grow, Flow* * **Boys = Testicular development \>4mL** - Prader’s orchidometer
38
What is Gonadotrophin-dependent Precocious Puberty (GDPP)?
**Premature activation of HPG axis** * Idiopathic → no cause found in 80% girls and 40% boys * Can be linked with CNS abnormalities - *tumours, trauma, central congenital disorders*
39
What is Gonadotrophin-independent Precocious Puberty (GIPP)?
**Early puberty from increased gonadal activation independent of HPG** - *20% of PP* * Ovarian → follicular cyst, granulosa cell tumour, Leydig cell tumour, gonadoblastoma * Testicular → Leydig cell tumour, testotoxicosis (defective LH-R function; familial) * Adrenal → CAH, Cushing’s syndrome * Tumours → b-hCG-secreting tumour of liver, tumours of ovary, testes, adrenals * McCune-Albright syndrome → multiple endocrinopathy of thyrotoxicosis, Cushing’s, acromegaly * S/S: polyostotic fibrous dysplasia, café-au-lait spots, ovarian cysts * Exogenous hormones → COCP, testosterone gels
40
What is Benign Isolated Precocious Puberty (GIPP)?
**Generally are self-limiting → no organic problem** * Premature thelarche (isolated breast development before 8yo) - normally between 6m and 2yo * May occur in those \<3yo then spontaneously regresses - due to maternal oestrogen early on * Premature pubarche/adrenarche (isolated pubic hair development before 8yo (girls) or 9yo (boys)) * Due to early adrenal androgen secretion in middle childhood * More common in Asian or Afro-Caribbean * Premature menarche (isolated vaginal bleeding before 8yo)
41
What are the features of premature Thelarche?
* Absence of other pubertal signs * Normal growth * Normal USS of uterus * Rarely progress past Tanner stage 3
42
What are the appropriate investigations for suspected precocious puberty?
* **GnRH stimulation test = Gold-standard** * FSH, LH low = GIPP * FSH, LH high = GDPP * **Wrist X-Ray for Bone age** * **General hormone profile** → basal LH/FSH, serum testosterone and oestrogen * **Urinary 17-OH progesterone** - for suspected CAH * Females → **Pelvic USS -** *usually not of concern* * Premature onset of normal puberty → multicystic ovaries and enlarging uterus * Rule out gonadal tumour, cysts * Males → **Examination of testes, MRI (intracranial tumours), GnRH-stimulated LH/FSH** - *commonly has an organic cause* * Prader’s orchidometer measurement and examination of testes * Bilateral enlargement → GDPP *(intercranial lesion → i.e. optic glioma in NF1)* * Unilateral enlargement → gonadal tumour * Small testes → tumour or CAH
42
What is the management of precocious puberty?
* **Refer to paediatric endocrinologist** * GDPP no underlying pathology / Benign cause = **often no treatment is required** * Gonadotrophin-Dependent Precocious Puberty (excluding neoplasms) * **GnRH agonist + GH therapy** * GnRH agonists overstimulate pituitary → desensitisation → arrest puberty * GH therapy used as GnRH agonists can stunt growth * **GnRH agonist + Anti-androgen** *(cryproterone)* * Supresses peripheral androgen action * Gonadotrophin-Independent Precocious Puberty (excluding neoplasms) * CAH = **Hydrocortisone + GnRH agonist** * *McCune Albright or Testotoxicosis* * *1st = Ketoconazole or cyproterone* * *2nd = Aromatase inhibitors*
43
What are the causes of congenital hypothyroidism?
* **Thyroid gland defects** (75%) * Missing, ectopic or poorly developed thyroid - not inherited * **Disorder of thyroid hormone metabolism** (10%) * TSH unresponsive / defects in TG structure - inherited * **Hypothalamic or pituitary dysfunction** (5%) * Tumours, ischemic damage, congenital defects * **Transient hypothyroidism** (10%) * Maternal medication (carbimazole), maternal ABs (i.e. Hashimoto’s)
44
What are the signs and symptoms of hypothyroidism? include signs specific to congenital hypothyroidism.
* Growth failure * Excess weight gain * Short stature * Feeding difficulties * Lethargy * Constipation * Large fontanelles * Myxoedema * Nasal obstruction * Low temperature * Jaundice * Hypotonia * Pleural effusion * Oedema * Goitre * Congenital defects * Unique symptoms * Coarse features * Macroglossia * Umbilical hernia
45
What are the appropriate investigations of hypothyroidism?
* High TSH * Low T4 * Measure thyroid autoantibodies * US or radionucleotide scan
46
What is the management of hypothyroidism?
* **Thyroxine hormone replaced with levothyroxine OD** * Titrate dose to TFTs + regular monitoring * Early detection and replacement is key in congenital hypothyroidism * Monitor growth * Milestones * Development
47
How can a mother's health cause neonatal hyperthyroidism
* Mother has Grave’s disease * Circulating TSHr-AB cross the placenta → bind to TSHr → stimulate foetal thyroxine production * 1-2% of new-borns are hyperthyroid
48
What are the signs and symptoms of foetal and neonatal hyperthyroidism?
* **Foetus** * High CTG trace * Goitre on USS * **Neonate** (\<2w) * Irritability * Weight loss * Tachycardia * Heart failure * Diarrhoea * Exophthalmos
49
What is the management of childhood hyperthyroidism?
* Medical management (2 years) = **Carbimazole or Propylthiouracil** * Both thionamides are associated with a risk of neutropoenia * Safety net to seek medical attention and a blood count if sore throat or fever on treatment * Beta-blockers may be considered for symptomatic relief * Other management: * **Radioiodine treatment** * **Surgery**
50
What is the classification of obesity in children - not via BMI?
* Severely Obese = 99th centile * Obese = \>95th centile * Overweight = 85-94th centile
51
What are the risk factors for childhood obesity?
* Low socioeconomic status * Poor diet * Genetics * Little exercise
52
What are the appropriate investigations for suspected obesity?
* **Growth chart plotting** – BMI percentile chart, adjusted to age and gender * **Nutritional assessment** – BMI, triceps skinfold thickness * **Bloods** – cholesterol, triglyceride levels, endocrine assays for conditions e.g. adrenal disease * **Urine** – glucosuria → T2DM * **Radiology** – USS/CT/MRI head for specific conditions or syndromes
53
What is the management of childhood obesity?
* **Exclude underlying medical condition** * Conservative * **Self-esteem and confidence building** * Address **lifestyle** (i.e. food diary and locate where they may eat too much) * Therapeutic aims * Reduce excess weight whilst not compromising growth needs * Dietary counselling with vitamin & micronutrient supplementation * Behaviour modification (adjust approach dependent on age group) * Stepwise physical activity programme – increase activity & decrease inactivity * Adherence to plan needs strong support from child and family * Fat intake \<30% of total calories * *Surgical – not recommended in young people*
54
What are the complications of childhood obesity?
* Psychosocial * Bullying * Discrimination * Isolation * Growth * Advanced bone age * Increased height * Early menarche * Respiratory system * Sleep apnoea * Pickwickian syndrome - *obesity hyperventilation syndrome* * Orthopaedic * Slipped capital femoral epiphysis * Blount disease / Varus bowing of tibia * Metabolic syndrome * Insulin resistance * Atherogenic dyslipidaemia from inc. TG and decreased HDL and HTN * Hepatobiliary * Hepatis steatosis * Gallstones
55
What is Rickets?
Impaired skeletal growth through inadequate mineralisation of bone laid down at the epiphyseal growth plates.
56
What are the causes of Rickets?
* **Calcium deficiency** * Dietary * Malabsorption * **Vitamin D defects** * Deficiency – *diet, malabsorption, lack of sunlight, iatrogenic (drug induced – phenytoin therapy)* * Metabolic defect – *1α hydroxylase deficiency, liver disease, renal disease* * Defect in action – *HVDRR (Hereditary Vitamin D Receptor Resistant) Rickets* * **Phosphate deficiency** * Dietary * Renal tubular phosphate loss – *hypophosphatemic rickets (X-linked, AR or AD)* * Acquired hypophosphatemic rickets – *Fanconi syndrome, renal tubular acidosis, nephrotoxic drugs*
57
What are the signs and symptoms of Rickets?
* Growth delay or arrest * Bone pain * Fractures * Skeletal * Swelling wrists/costochondral junctions (rickets rosary) * Bowed long bones * Frontal bossing
58
What are the appropriate investigations for suspected rickets?
* **X-ray**: * Thickened and widened epiphysis * Cupping metaphysis * Bowing diaphysis * **Biochemical**: * Reduced Ca2+ and PO42- → *Ca2+ x PO42- = \<2.4 = diagnostic* * Raised ALP
59
What is the management of rickets?
* Prevention * **Daily VitD in formula/multivitamin** * **Pregnant/lactating women receive 400iu/day** * Dietary sources – fatty fish (herring, mackerel, salmon, tuna), egg yolk, fortified foods, shop bought milk, cereals * Correct low vitamin D levels with increased intake * **Calcium supplements** * **Oral vitamin D2** (ergocalciferol) or **oral vitamin D3** (cholecalciferol) * Periodic measurement of serum calcium, phosphate, ALP, urine calcium: creatinine ratio
60
Define Skeletal Dysplasia.
\>350 disorders leading to various degrees of dwarfism * Most commonly due to * Achondroplasia * S/S - arms and legs short, normal length thorax * Hypochondroplasia * S/S - small stature, micromelia (small extremities), large head
61
Define Dwarfism.
Height less than 2 S.D. below the mean.
62
What are the signs and symptoms of achondroplasia?
* Short arms and legs short * Normal length thorax
63
What are the signs and symptoms of hypochondroplasia?
* Small stature * Micromelia (small extremities) * Large head
64
What are the causes of achondroplasia and hypochondroplasia?
* **FGFR3 gene** * Autosomal dominant defects in Fibroblast Growth Factor Receptor 3 (FGFR3) gene * FGFR3 gene causes severe bone shortening through constitutively active receptors
65
What is the cause of stature change in Turner's and Klinefelter's?
* **SHOX (Short stature Homeobox) gene - X chromosome** * Turner’s (XO) = 1 less SHOX = short stature * Klienfelter’s (XXXY) \>2 SHOX genes = tall stature * RF = advancing parental age at time of conception
66
What is osteogenesis imperfecta?
AKA: Brittle Bone * 7 forms - Type 1 is the most common = abnormal pro-alpha 1 or 2 collagen polypeptides * S/S * Blue sclera * Short stature * Loose joints * Hearing loss * Breathing problems
67
What are the signs and symptoms of achondroplasia?
* Short stature with shortening of limbs * Hydrocephalus * Large head * Frontal bossing * Depression of nasal bridge * Short, broad hands * Marked lumbar lordosis * ‘Trident Hands’
68
What are the appropriate investigations for suspected achondroplasia?
* **Prenatal scans** → apparent from 22w GA * **Clinical diagnosis** * **X-ray** * Metaphyseal irregularity (inverted V metaphysis = ‘chevron deformity’ * Flaring in long bones, late-appearing irregular epiphyses * Molecular analysis confirmation
69
What is the management of achondroplasia?
* Condition specific centile charts * Regular follow-up (complications) * Gross motor skill delay * Kyphosis * Early osteoarthritis * Risks from hydrocephalus * Obesity * ENT issues

Y5 Paediatrics (26 decks)

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