Endocrine clinical exam

Question 1

Short and fat

Answer 1

Syndromal
- PWS
-Bardet Biedl
-T21

Endocrine
- GH deficiency (or part of SOD)
-hypopituitarism
- hypothyroidism
- Cushings syndrome
-pseudohypoparathyroidism

Question 2

Short stature differentials

Answer 2

IS NICE

Idiopathic - delay, familial
Intrauterine- SGA, TORCH, FASD
Skeletal (dysplasia/OI, scoliosis, syndromes (T21, Williams, RSS, PWS, Turnders), Septooptic dysplasia
Nutritional (malabsoption)
Iatrogenic (steroids, radiation)
Chronic disease (CKD, CF, IBD)
Craniophyringioma
Endocrine (GH deficiency, hypopit, hypothyroid, Cushings syndrome, T1DM, pseudohypoparathyroidism

Metabolic- mucopolusaccharidosis

Question 3

Investigations short stature

Answer 3

Bone age

Chronic disease - FBE (anemia), ESR (IBD), eLFTs (CKD, CKD)
BSL, Hba1c (T1DM), TTG (coeliac)
Sweat test (CF)

Endocrine- TFTs, IGF1, GH stimulation tests (arginine, glucagon), dexamethosone suppression test (Cushings)

Genetic
Karyotype
Methylation studies

Skeletal dysplasias
- skeletal survey
Skeletal dysplasia panel
Achondroplasia- targeted gene analysis for FGFR3
OI- COL1A1/2 mutation - usually whole exome

Other:
MRI brain (intracranial tumor or pituitary hormone deficiency)

Noonans- PTPN1 gene analysis
RSS- MLPA

Everyone:
Bedside tests: BSL, urinalysis (protein, ketones, glucose) Then - basic bloods, TSH, TTG/IgA, ESR , nutritional screen all girls karyotype, bone age Xray

Question 4

Mid parental height

Answer 4

for girls: (maternal height in cm + paternal height minus 13cm) divided by 2

for boys: (maternal height in cm + paternal height plus 13cm) divided by 2

for both girls and boys, the normal range for final height is 8.5 cm on either side of the calculated value.

Question 5

Causes dysproportionate short stature

Answer 5

Increased US/LS ratio (ie short limbs):
- skeletal dysplasia, rickets, osteogenesis imperfecta

Reduced US/LS ratio (ie short torso)
- scoliosis
- spinal irradiation

Question 6

Tall stature differentials

Answer 6

Proportionate
- familial
-constitutinal
- precocious puberty
- GH excess (gigantism)
- Sotos syndrome (+ macrocephaly)
- NF-1
- Fragile x

Disproportionate (long arms)
- marfan
homocystinuria
- kleinfelter
-beckwith wiederman

Question 7

BWS screening

Answer 7

DIAGNOSIS: methylation studies

abdominal USS (Wilms)
AFP 3 monthly until age 4 years
sleep study (sleep apnoea)