title: Review and management of 46,XY disorders of sex development.
abstract: Disorders of sex development (DSD) among 46,XY individuals are rare and challenging conditions. Abnormalities of karyotype, gonadal formation, androgen synthesis, and androgen action are responsible for the multiple disorders that result in undervirilization during development. Phenotypic appearance and timing of presentation are quite variable. The focus of treatment has shifted from early gender assignment and corrective surgery to careful diagnosis, proper education of patients and their families, and individualized treatment by a multi-disciplinary team. The modern management of these patients is difficult and controversial. Conflicting data on long-term outcomes of these individuals have been reported in the literature. The various etiologies of 46,XY DSD, current approaches to diagnosis and treatment, and reported long-term results are reviewed.
authors.affiliation: James Buchanan Brady Urological Institute, Division of Pediatric Urology, The Johns Hopkins University School of Medicine, 1800 Orleans Street, Bloomberg 7302, Baltimore, MD 21287, USA. emassan1@jhmi.edu
authors.forename: Eric Z
authors.initials: EZ
authors.lastname: Massanyi
authors.forename: Heather N
authors.initials: HN
authors.lastname: Dicarlo
authors.forename: Claude J
authors.initials: CJ
authors.lastname: Migeon
authors.forename: John P
authors.initials: JP
authors.lastname: Gearhart
mesh_terms: D013734:Androgen-Insensitivity Syndrome / Q000378:metabolism; D058490:Disorder of Sex Development, 46,XY / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology / Q000628:therapy*; D005260:Female; D005836:Genitalia, Female / Q000601:surgery; D005837:Genitalia, Male / Q000601:surgery; D006061:Gonadal Dysgenesis, 46,XY / Q000196:embryology / Q000235:genetics; D006801:Humans; D008297:Male; D010348:Patient Care Team; D019651:Plastic Surgery Procedures; D016896:Treatment Outcome