Monozygotic adult twins with nonmosaic Klinefelter syndrome with different results of sperm retrieval

Andrologia. 2022 Feb;54(1):e14266. doi: 10.1111/and.14266. Epub 2021 Oct 8.

Abstract

Klinefelter syndrome and monozygotic twins are both rare. The reports of monozygotic twins with Klinefelter syndrome to have undergone fertility treatment are uncommon. This case report describes a case of 30-year-old monozygotic adult twin brothers diagnosed with nonmosaic Klinefelter syndrome following the complaint of infertility. The result of semen analysis showed cryptozoospermia (very low sperm count) and azoospermia (zero sperm count) with physical findings and lifestyles being very similar. They both underwent microtesticular sperm extraction. One had successful sperm retrieval and achieved pregnancy through intracytoplasmic sperm injection, whereas the other did not. Testicular pathological findings showed Sertoli cell-only syndrome. To the best of our knowledge, this is the first report on monozygotic adult twins both of whom underwent microtesticular sperm extraction and resulted in different outcomes.

Keywords: Klinefelter syndrome; Sertoli cell-only syndrome; azoospermia; cryptozoospermia; monozygotic twins.

Publication types

  • Case Reports
  • Twin Study

MeSH terms

  • Adult
  • Azoospermia* / etiology
  • Female
  • Humans
  • Klinefelter Syndrome* / complications
  • Klinefelter Syndrome* / diagnosis
  • Klinefelter Syndrome* / genetics
  • Male
  • Pregnancy
  • Sperm Injections, Intracytoplasmic
  • Sperm Retrieval
  • Spermatozoa
  • Testis