title: The effect of 5α-reductase-2 deficiency on human fertility.
abstract: A most interesting and intriguing male disorder of sexual differentiation is due to 5α-reductase-2 isoenzyme deficiency. These male infants are born with ambiguous external genitalia due to a deficiency in their ability to catalyze the conversion of T to dihydrotestosterone. Dihydrotestosterone is a potent androgen responsible for differentiation of the urogenital sinus and genital tubercle into the external genitalia, urethra, and prostate. Affected males are born with a clitoral-like phallus, bifid scrotum, hypospadias, blind shallow vaginal pouch from incomplete closure of the urogenital sinus, and a rudimentary prostate. At puberty, the surge in mainly T production prompts virilization, causing most boys to choose gender reassignment to male. Fertility is a challenge for affected men for several reasons. Uncorrected cryptorchidism is associated with low sperm production, and there is evidence of defective transformation of spermatogonia into spermatocytes. The underdeveloped prostate and consequent low semen volumes affect sperm transport. In addition, semen may not liquefy due to a lack of prostate-specific antigen. In the present review, we discuss the 5α-reductase-2 deficiency syndrome and its impact on human fertility.
authors.affiliation: Ronald O. Perelman and Claudia Cohen Center for Reproductive Medicine, Weill Cornell Medical Center, New York, New York.
authors.forename: Hey-Joo
authors.initials: HJ
authors.lastname: Kang
authors.affiliation: Division of Endocrinology, Diabetes & Metabolism, Weill Cornell Medical Center, New York, New York.
authors.forename: Julianne
authors.initials: J
authors.lastname: Imperato-McGinley
authors.affiliation: Division of Endocrinology, Diabetes & Metabolism, Weill Cornell Medical Center, New York, New York.
authors.forename: Yuan-Shan
authors.initials: YS
authors.lastname: Zhu
authors.affiliation: Ronald O. Perelman and Claudia Cohen Center for Reproductive Medicine, Weill Cornell Medical Center, New York, New York. Electronic address: zrosenw@med.cornell.edu.
authors.forename: Zev
authors.initials: Z
authors.lastname: Rosenwaks
mesh_terms: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000172:deficiency* / Q000235:genetics; D000818:Animals; D002240:Carbohydrate Sequence / Q000235:genetics; D005260:Female; D005298:Fertility / Q000235:genetics*; D005837:Genitalia, Male / Q000002:abnormalities / Q000201:enzymology; D006801:Humans; D007248:Infertility, Male / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics; D007527:Isoenzymes / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data
chemical_list: D007527:Isoenzymes; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase
keywords: 5-alpha-reductase-2 deficiency; genetic steroid disorders; genotype; infertility; phenotype