Infantile XX male: a case report.
A case of infantile XX male syndrome with bilateral scrotal testes and penoscrotal hypospadias is presented. No evidence of XX/XY mosaicism of Y chromatin was obtained in preparations from cultures of the peripheral blood, skin fibroblast, or other tissues. Although true hermaphroditism was suspected, exploration of the bilateral gonadal structures failed to detect the presence of ovarian structures, either grossly or microscopically. Furthermore, exploratory laparotomy revealed no Mullerian structures. The difficulty of early diagnosis of XX males in infancy is emphasized.
D000015:Abnormalities, Multiple / Q000235:genetics; D001789:Blood Group Antigens; D006801:Humans; D007021:Hypospadias / Q000235:genetics; D007223:Infant; D008297:Male; D012611:Scrotum / Q000002:abnormalities / Q000473:pathology; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D012730:Sex Chromosomes; D013737:Testis / Q000002:abnormalities / Q000473:pathology
D001789:Blood Group Antigens