title: Fertility in patients with congenital adrenal hyperplasia.
abstract: Congenital adrenal hyperplasia (CAH) is the most frequently encountered genetic steroid disorder affecting fertility. Steroid hormones play a crucial role in sexual development and reproductive function; patients with either 21- hydroxylase or 11β-hydroxylase deficiency thus face immense challenges to their fertility. Given the relevance of CAH in reproductive medicine as well as the diagnostic challenges posed by the phenotypic overlap with polycystic ovary syndrome, we review the reproductive pahophysiology of both classic and nonclassic CAH and present contemporary treatment options.
authors.affiliation: The Ronald O. Perelman and Claudia Cohen Center for Reproductive Medicine, Weill Cornell Medical Center, New York, New York.
authors.forename: David E
authors.initials: DE
authors.lastname: Reichman
authors.affiliation: Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas.
authors.forename: Perrin C
authors.initials: PC
authors.lastname: White
authors.affiliation: Division of Pediatric Endocrinology; Division of Genetics and Genomic Sciences, Mount Sinai Hospital, New York, New York.
authors.forename: Maria I
authors.initials: MI
authors.lastname: New
authors.affiliation: The 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: D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy; D000818:Animals; D005260:Female; D005298:Fertility / Q000502:physiology*; D006801:Humans; D007246:Infertility / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D008297:Male; D013255:Steroid 21-Hydroxylase / Q000235:genetics
chemical_list: C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase
keywords: 11b-hydroxylase; 21 hydroxylase; CAH; genotype; infertility; phenotype; steroidogenesis