title: Ovotesticular disorder of sex development with mosaic 45,X/46,X,idic(Y) (q11.23) karyotype and streak gonad.
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.
authors.affiliation: James Buchanan Brady Urological Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.
authors.forename: Christine N
authors.initials: CN
authors.lastname: Tran
authors.forename: Michelle J
authors.initials: MJ
authors.lastname: Semins
authors.forename: Jonathan I
authors.initials: JI
authors.lastname: Epstein
authors.forename: John P
authors.initials: JP
authors.lastname: Gearhart
mesh_terms: D006801:Humans; D007231:Infant, Newborn; D059785:Karyotype; D008297:Male; D009030:Mosaicism; D050090:Ovotesticular Disorders of Sex Development / Q000235:genetics*