In CAH, the absence of a critical enzyme allows ... testosterone to stimulate masculinizing puberty. Like Klinefelter Syndrome, Turner Syndrome is marked by an abnormal karyotype, 45,XO.

Liddle syndrome is an autosomal dominant disorder ... AME = apparent mineralocorticoid excess; CAH = congenital adrenal hyperplasia; DOC = deoxycorticosterone; FH-I = familial hyperaldosteronism ...

The FDA has approved Neurocrine Bioscience's Crenessity for classic congenital adrenal hyperplasia (CAH), the first drug for the rare disorder that works by directly targeting the underlying ...