17α-hydroxylase deficiency in a 46,XY individual with a hypoplastic uterus: In vitro functional validation of a CYP17A1 mutation.

Abstract excerpt

17α-hydroxylase deficiency (17-OHD) is a rare autosomal recessive disorder caused by CYP17A1 mutations, and patients with a 46,XY karyotype typically lack a uterus. Here we report a 46,XY 17-OHD case presenting with a hypoplastic uterus and a history of left adrenalectomy, and provide the first in vitro functional characterization of the CYP17A1 c.985_987delTACinsAA mutation. The patient underwent clinical,...

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