Congenital Adrenal Hyperplasia

Question 1

What is Congenital Adrenal Hyperplasia?

Answer 1

Congenital Adrenal Hyperplasia is a autosomal recessive disease which causes enlarged adrenal glands from birth

Question 2

What is the aetiology of Congenital Adrenal Hyperplasia?

Answer 2

Congenital Adrenal Hyperplasia is caused by a 21-hydroxylase deficiency

Question 3

What are the signs and symptoms of Congenital Adrenal Hyperplasia?

Answer 3

The signs and symptoms of Congenital Adrenal Hyperplasia are
Low cholesterol
Hypertension (rare)

Severe cases - 
Neonatal salt-losing crisis 
Ambiguous genitalia (female) 

Incomplete defects -
Pseudo-precocious puberty (males)
Hirsutisim (women with male hair growth)