Endo - Congenital Adrenal Hyperplasia

Question 1

What drives congenital adrenal hyperplasia?

Answer 1

Congenital deficiency of 21-hydroxylase enzyme

This in turn causes underproduction of cortisol and aldosterone + overproduction of androgens from birth

Question 2

Genetics of CAH>

Answer 2

Autosomal recessive

Question 3

What other deficiencies can occur?

Answer 3

11-beta-hydroxylase

17-hydroxylase

Question 4

What are the clinical features seen in a girl born with CAH?

Answer 4

Female patients: ambiguous genitalia (virilisation) and enlarged clitoris due to high testosterone levels

Question 5

What does the cortisol and aldosterone deficiency result in in these newborns?

Answer 5

Hyponatraemia
Hyperkalaemia
Hypoglycaemia
Metabolic acidosis

:

Poor feeding
vomiting
dehydration
arrhythmias

Question 6

How to diagnose CAH?

Answer 6

Raised 17a-hydroxyprogesterone

This is diagnostic

Question 7

Management of CAH?

Answer 7

Break it down into:

Cortisol replacement: lifelong hydrocortisone

Aldosterone replacement: fludrocortisone