46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in all its forms, accounts for over 95% of diagnosed cases of congenital adrenal hyperplasia (CAH), and CAH in most contexts refers to 21-hydroxylase deficiency and different mutations related to enzyme impairment have been mapped on protein structure. Presentation Severe, early onset 21-hydroxylase deficient CAH The two most serious neonatal consequences of 21-hydroxylase deficiency occur: life-threatening salt-wasting crises in the first month of life (for male and female infants alike) and severe virilization of female infants. [Source: Wikipedia ]