Congenital Adrenal Hyperplasia

Question 1

What is deficient in CAH

Answer 1

Congenital deficiency of the 21-hydroxylase enzyme

Question 2

Rare cause of CAH

Answer 2

Some cases it can be due to 11-beta-hydroxylase deficiency

Question 3

What does CAH cause

Answer 3

Underproduction of cortisol and aldosterone, and overproduction of androgens.

Question 4

Pathophysiology of CAH

Answer 4

Enzyme deficiency means progesterone does not get converted into aldosterone and cortisol, instead more gets converted into testosterone.

Question 5

Presentation of severe cases of CAH

Answer 5

Virilised genitalia, enlarged clitoris in females. Shortly after birth with hyponatraemia, hyperkalaemia, and hypoglycaemia, leading to signs of poor feeding, vomiting, dehydration, arrythmias

Question 6

Presentation of mild CAH

Answer 6

Present during childhood or puberty, often tall for their age, early puberty.
Females - facial hair, absent periods, deep voice.
Males - deep voice, large penis, small testicles

Question 7

Management of CAH

Answer 7

Cortisol replacement with hydrocortisone and aldosterone replacement with fludrocortisone