Pregnancy in a hermaphrodite with a male-predominant mosaic karyotype

Fertil Steril. 2008 Nov;90(5):2016.e7-10. doi: 10.1016/j.fertnstert.2008.01.104. Epub 2008 Apr 18.

Abstract

Objective: To report a pregnancy in a hermaphrodite and review of the literature.

Design: Case report and literature review.

Setting: Clinical.

Patient(s): A patient with male-predominant mosaic karyotype 96% 46XY.

Intervention(s): Removal of left ovotestis in combination with a supracervical hysterectomy and bilateral salpingo-oophorectomy.

Main outcome measure(s): Identification of published cases of pregnancy and hermaphroditism.

Result(s): The current patient had previous pregnancy and a wedge biopsy of her left gonad, which demonstrated an ovotestis and an area suspicious for a gonadoblastoma. After delivery of her second pregnancy, the patient underwent a hysterectomy and bilateral salpingo-oophorectomy. The histopathologic evaluation following bilateral oophorectomy demonstrated a residual ovotestis without further evidence of a gonadoblastoma. Review of the literature identified 10 other cases of pregnancy in a hermaphrodite patient.

Conclusion(s): This is the 11th reported case of fertility in a true hermaphrodite and only the second report of a mosaic true hermaphrodite to demonstrate fertility. This is the only case of a pregnancy involving a male-predominant mosaic 96% 46XY and the only case to confirm the genetics of the offspring.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Female
  • Fertility*
  • Gonadal Dysgenesis, Mixed / genetics
  • Gonadal Dysgenesis, Mixed / pathology
  • Gonadal Dysgenesis, Mixed / physiopathology*
  • Gonadoblastoma / genetics
  • Gonadoblastoma / pathology
  • Gonadoblastoma / prevention & control
  • Humans
  • Hysterectomy
  • Karyotyping
  • Laparoscopy
  • Live Birth
  • Male
  • Mosaicism
  • Ovarian Neoplasms / genetics
  • Ovarian Neoplasms / pathology
  • Ovarian Neoplasms / prevention & control
  • Ovariectomy
  • Ovary / pathology*
  • Ovary / surgery
  • Ovotesticular Disorders of Sex Development / genetics
  • Ovotesticular Disorders of Sex Development / pathology
  • Ovotesticular Disorders of Sex Development / physiopathology*
  • Pregnancy
  • Testicular Neoplasms / genetics
  • Testicular Neoplasms / pathology
  • Testicular Neoplasms / prevention & control
  • Testis / pathology*
  • Testis / surgery