Dysgenetic male pseudohermaphroditism in a 45,X/46,X,del(Y)(q11.1) mosaic infant.
We describe an infant with dysgenetic male pseudohermaphroditism and the karyotype 45,X/46,X,del(Y)(q11.1). Histologic examination of the resected gonads showed cortical dysplasia indicative of incipient gonadoblastoma.
D012734:Disorders of Sex Development / Q000235:genetics / Q000473:pathology*; D005187:Fallopian Tubes / Q000473:pathology; D005260:Female; D006059:Gonadal Dysgenesis / Q000473:pathology*; D006060:Gonadal Dysgenesis, Mixed / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D013737:Testis / Q000473:pathology