Bilge Aydın Behram

Microscopic Müllerian Duct Remnants in a 46,XY Individual with Genetically Confirmed 17α-Hydroxylase/17,20-Lyase Deficiency: an Unexpected Histopathological Finding.

17α-hydroxylase/17,20-lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia characterized by impaired cortisol and sex steroid synthesis with accumulation of mineralocorticoid precursors. Although hypertension, hypokalemia, and sexual infantilism represent the classical phenotype, atypical presentat...