pediatrics
Congenital Adrenal Hyperplasia Caused by 11Beta Hydroxylase Deficiency
Symptoms and Signs
Female neonates may present with genital ambiguity, including clitoral enlargement, labial fusion, and a urogenital sinus. Male neonates usually appear normal, but some present with penile enlargement. Some children present later, with precocious puberty or, in females, menstrual irregularities and hirsutism. Salt retention with hypernatremia, hypertension, and hypokalemic alkalosis may result from increased mineralocorticoid activity due to increased deoxycorticosterone levels. 