Male hermaphroditism with bilateral testes, well-formed Müllerian structures, and 45,X chromosome complement.
A patient is presented who was short in stature and had an enlarged phallus, normal vagina, uterus, fallopian tubes, and bilateral testes but with a 45,X karyotype from peripheral leukocytes. This is believed to be the first such patient ever reported. Such patients and other previously described male hermaphrodites with a 45,X karyotype indicate that, contrary to the general rule that patients with 45,X karyotype do not require a laparotomy, patients with such a karyotype should be explored if their genitalia are ambiguous.
D002369:Castration; D002648:Child; D012734:Disorders of Sex Development / Q000209:etiology / Q000235:genetics / Q000473:pathology*; D005260:Female; D005837:Genitalia, Male / Q000601:surgery; D006801:Humans; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D010413:Penis / Q000601:surgery; D013737:Testis / Q000473:pathology*