Monday, October 10, 2011


You deliver an infant who has ambiguous genitalia. The child is born at 38 weeks to a 32 year old G1P1 Caucasian woman. The parent declined all prenatal screening and testing. At birth, a karyotype is 46,XX. You note clitoral enlargement, labial fusion, and formation of a urogenital sinus. She is at risk for early puberty and short stature.

Challenge: What is this autosomal recessive disorder?

1 comment:

Craig Chen said...


This is congenital adrenal hyperplasia, most commonly a defect in conversion of 17-hydroxyprogesterone to 11-deoxycortisol by 21-hydroxylase. There is decreased cortisol synthesis and increased ACTH which leads to increased androgen production.

Source: UpToDate.