hrp0089p3-p337 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Normal External Genitalia in a Female with Classic, Salt-Wasting 21-Hydroxylase Deficiency

Alsarraj Hadeel

Background: 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia, a family of autosomal recessive disorders involving impaired synthesis of cortisol by the adrenal cortex. Females with severe, classic 21-hydroxylase deficiency are exposed to excess androgens prenatally and are born with virilized external genitalia. This form is further divided into the simple virilizing form and the salt-wasting form, in which aldosterone production is inadequa...