title: The impact of genetic steroid disorders on human fertility.
abstract: Human fertility requires an exquisitely complex orchestration of steroid hormone action to affect the necessary elements of reproduction, including folliculogenesis, endometrial advancement, ovulation, and implantation. Individuals affected by genetic steroid disorders often face substantial challenges to these crucial elements of fertility, in addition to the broader health implications of their diseases. In the following article, we review the impact of genetic steroid disorders on human reproduction, as well as the treatments, where available, aimed at circumventing such hurdles. Adrenal disorders will first be described, followed by rare gonadal steroid disorders.
authors.affiliation: The Ronald O. Perelman & Claudia Cohen Center for Reproductive Medicine, USA; Weill Cornell Medical College, USA.
authors.forename: David
authors.initials: D
authors.lastname: Reichman
authors.affiliation: The Ronald O. Perelman & Claudia Cohen Center for Reproductive Medicine, USA; Weill Cornell Medical College, USA. Electronic address: zrosenwaks@med.cornell.edu.
authors.forename: Zev
authors.initials: Z
authors.lastname: Rosenwaks
mesh_terms: D000307:Adrenal Gland Diseases / Q000235:genetics*; D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D000728:Androgens / Q000378:metabolism; D000818:Animals; D004252:DNA Mutational Analysis; D005260:Female; D005298:Fertility / Q000235:genetics*; D006066:Gonads / Q000378:metabolism; D006728:Hormones / Q000378:metabolism; D006801:Humans; D007246:Infertility / Q000235:genetics; D008297:Male; D051379:Mice; D009154:Mutation; D010060:Ovulation; D012098:Reproduction; D013252:Steroid 11-beta-Hydroxylase / Q000235:genetics; D013256:Steroids / Q000378:metabolism*
chemical_list: D000728:Androgens; D006728:Hormones; D013256:Steroids; D013252:Steroid 11-beta-Hydroxylase
keywords: Fertility; Genetics; Steroid disorders