title: Prophylactic Bilateral Gonadectomy for Ovotesticular Disorder of Sex Development in a Patient With Mosaic 45,X/46,X,idic(Y)q11.222 Karyotype.
abstract: Ovotesticular disorder of sex development is historically thought to confer a relatively low risk of germ cell malignancy relative to other disorders of sex development. This is likely due in part to the high prevalence of a normal 46,XX karyotype in these patients. However, disorders of sex development represent a broad phenotypic spectrum, and often patients cannot be neatly categorized with a single diagnosis. We report an atypical case of ovotesticular disorder of sex development in a child with ambiguous genitalia and 45,X/46,XY mosaic karyotype. Prophylactic bilateral gonadectomy was performed at age 14 months.
authors.affiliation: Section of Urology, Department of Surgery, The University of Chicago, 5841 S. Maryland Ave., Chicago, IL 60637, USA.
authors.forename: Russell E N
authors.initials: RE
authors.lastname: Becker
authors.affiliation: The James Buchanan Brady Urological Institute, Johns Hopkins University, 601 N. Caroline St., Baltimore, MD 21287, USA.
authors.forename: Ardavan
authors.initials: A
authors.lastname: Akhavan
keywords: DSD, Disorder of sex development; Disorder of sex development; GBY, Gonadoblastoma locus on the Y chromosome; Mosaicism; OTDSD, Ovotesticular disorder of sex development; Ovotesticular disorder; Prophylactic gonadectomy; TSPY1, Testis-specific protein, Y-linked 1; True hermaphroditism; Turner mosaic; idic, isodicentric