adrenal hyperplasia type 2

Epidemiology

• common recessive disease

Pathology

• defective synthesis of cortisol
• androgen excess

Genetics

• associated with defects in HSD3B2

Clinical manifestations

• virilization is much less marked or does not occur
• frequently lethal in early life

More general terms

• congenital adrenal hyperplasia (21-hydroxylase deficiency)