Urology Case Reports (Mar 2016)

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

  • Russell E.N. Becker,
  • Ardavan Akhavan

DOI
https://doi.org/10.1016/j.eucr.2015.12.003
Journal volume & issue
Vol. 5, no. C
pp. 13 – 16

Abstract

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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.

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