Spermatogonium-Derived Complete Hydatidiform Mole

N Engl J Med. 2021 Mar 11;384(10):936-943. doi: 10.1056/NEJMoa2005756.

Abstract

A complete hydatidiform mole (CHM) is a conceptus with only sperm-derived chromosomes. Here, we report on a CHM with genomic DNA identical to that of the paternal somatic cells. The CHM developed in a woman who had undergone intrauterine implantation of a blastocyst obtained through in vitro injection of a presumed round spermatid into one of her oocytes. The CHM was genetically identical to peripheral white cells of her husband and contained no maternally derived nuclear DNA. We hypothesize that a spermatogonium, rather than a round spermatid, was inadvertently selected for the procedure. The CHM developed into a gestational trophoblastic neoplasia, which resolved after chemotherapy. (Funded by the Japan Society for the Promotion of Science.).

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Female
  • Fertilization in Vitro / adverse effects
  • Fertilization in Vitro / methods
  • Genomic Imprinting
  • Humans
  • Hydatidiform Mole / etiology
  • Hydatidiform Mole / genetics*
  • Hydatidiform Mole / pathology
  • Male
  • Pregnancy
  • Spermatids*
  • Spermatogonia*
  • Uterine Neoplasms / etiology
  • Uterine Neoplasms / genetics*
  • Uterine Neoplasms / pathology