Prophylactic Bilateral Gonadectomy for Ovotesticular Disorder of Sex Development in a Patient With Mosaic 45,X/46,X,idic(Y)q11.222 Karyotype

Urology Case Reports
Russell E N Becker, Ardavan Akhavan

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.

References

Aug 3, 2006·Pediatrics·Peter A LeeUNKNOWN International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European
Jun 19, 2010·Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation·J PleskacovaL H Looijenga
Apr 17, 2015·Journal of Pediatric Endocrinology & Metabolism : JPEM·Ayhan AbacıMerih Berberoğlu
Jun 6, 2015·Journal of Pediatric and Adolescent Gynecology·Melina L DendrinosElisabeth H Quint
Jul 8, 2015·Journal of Pediatric and Adolescent Gynecology·Ciro EspositoAntonio Savanelli

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Citations

Jul 26, 2017·Journal of Pediatric Endocrinology & Metabolism : JPEM·Juliana Gabriel Ribeiro de AndradeAndréa Trevas Maciel-Guerra
Jun 3, 2020·Medicine·Chun-Qiao ChenHui Huang

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