Endocrine

Question 1

Enzymes deficient in CAH

Answer 1

21 alpha hydroxylase (MCC = 90 %)
11 beta gmhydroxylase: htn, virilisation of female. Normal make)
3-beta HSD: Classic salt wasting: F = virilazed, M = HYPOmuscularization
17-alpha-OH: htn

Question 2

Salt wasting male CAH 21 ahd

history and PE

Answer 2

Presentation in neonatal period (5-10d) poor feeding, FTT, vomiting, listlessness, wet nappies

PE: FTT, dehydration, pigmented scrotum. Penis enlargement
Lab: decreased Na, increased K, decreases glucose

Question 3

Simple virilization male CAH 21 ahd Classic

Answer 3

Tall stature (later short) enlargement of phallus +- public hair
Penile enlargement + prepubertal tested
Acne
Advanced bone age

Question 4

Salt wasting female CAH 21 ahd

History and PE

Answer 4

Present at birth
Enlarged clitoris 
Rugosity of labia majors +- fusion 
Urogenital sinus 
No palpabral gonad 

If misdiagnosed m: adrenal crisis 5-10 d or life

Question 5

CAH

Definition

Answer 5

AR disorder resulting in mutation of genes for enzymes in the steroidgenetic pathway, leading to impairment of cortisol synthesis –> increases ACTH –> hyperplasia of adrenal gland