Male hermaphroditism with bilateral testes, well-formed Müllerian structures, and 45,X chromosome complement.

Abstract

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.

• Authors: V E Aimakhu, J Park, H W Jones
• Journal: Obstetrics and gynecology (Obstet Gynecol) Vol. 48 Issue 1 Suppl Pg. 25S-28S (Jul 1976) ISSN: 0029-7844 [Print] United States
• PMID: 940632 (Publication Type: Case Reports, Journal Article)

Topics

• Castration
• Child
• Disorders of Sex Development (etiology, genetics, pathology)
• Female
• Genitalia, Male (surgery)
• Humans
• Karyotyping
• Male
• Mosaicism
• Penis (surgery)
• Testis (pathology)