clinical features
Last reviewed 01/2018
At birth there is often clitoral enlargement and a cloacal membrane. This resembles a boy with hypospadias and undescended testes. In cases due to congenital adrenal hyperplasia the baby's life may be in danger due to a salt-losing syndrome due to associated aldosterone deficiency.
Masculinization in congenital hyperplasia may occur after birth. This is because during fetal development the lack of fetal cortisol is compensated by maternal cortisol production. After birth the lack of cortisol will result in excess secretion of the baby's ACTH. This will cause excess stimulation of the blocked pathway for the baby's cortisol production, and hence excess production of products before the blockage in the enzymatic pathway, ie androgens.