Ovotesticular disorder of sex development with mosaic 45,X/46,X,idic(Y) (q11.23) karyotype and streak gonad

Christine N. Tran, Michelle J. Semins, Jonathan I. Epstein, John P. Gearhart

Research output: Contribution to journalArticle

Abstract

An infant born at 38-weeks' gestation presented with ambiguous genitalia. Cytogenetic evaluation revealed an uncommon 45,X/46,X,idic(Y) mosaic karyotype. Pelvic ultrasonography, genitogram, and magnetic resonance imaging confirmed a long common urogenital sinus, vagina, cervix, unicornuate uterus, phallus, and bilateral intra-abdominal gonads resembling testes. The parents chose a male sex of rearing, and the infant underwent total abdominal hysterectomy, vaginectomy, bilateral gonadectomy, and first-stage hypospadias repair at 19 months of age. The histopathologic findings were consistent with ovotesticular disorder of sex development with a unique combination of testis and ovary on the left and testis and streak gonad on the right.

Original languageEnglish (US)
Pages (from-to)1178-1181
Number of pages4
JournalUrology
Volume78
Issue number5
DOIs
StatePublished - Nov 1 2011

ASJC Scopus subject areas

  • Urology

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