A newborn presents with somewhat ambiguous external genitalia. The genitalia appear as an enlarged clitoris and a scrotum-like structure that appears to result from labial fusion. An ultrasound reveals normal ovarian development. The karyotype is 46 XX. The findings are most likely due to a deficiency in which one of the following enzymes?
A) 11$\beta$-hydroxylase
B) 16$\alpha$-hydroxylase
C) 17$\alpha$-hydroxylase
D) 21$\alpha$-hydroxylase
E) 3$\beta$-hydroxysteroid dehydrogenase

Question

Quizplus · Accepted Answer

The presentation is consistent with congenital adrenal hyperplasia due to 21$\alpha$-hydroxylase deficiency, which leads to excess androgen production and virilization of a 46 XX female.

A Newborn Presents with Somewhat Ambiguous External Genitalia β\betaβ -Hydroxylase B) 16

A Newborn Presents with Somewhat Ambiguous External Genitalia $\beta$ -Hydroxylase
B) 16