46 XX DSD - CAH

Question 1

What is the most common cause of XX DSD?

Answer 1

Congenital adrenal hyperplasia which leads to the virilisation of the female foetus

Question 2

What is the pathophysiology of CAH?

Answer 2

1. Enzyme deficiency of 21-hydroxylase which converts progesterone into cortisol
2. Reduced level of cortisol causes hyperplasia of the adrenal gland
3. Excess androgen and increase in the blood levels of testosterone
4. Virilisation of external genitalia

Question 3

What is ‘salt losing CAH’?

Answer 3

1. CAH which also effects the ability to produce aldosterone and thus is life threatening

Question 4

Treatment for CAH

Answer 4

1. Life long steroid replacement of hydrocortisone

2. Genitalia feminising surgery