A 47,XXY fetus conceived after ICSI of spermatozoa from a patient with non-mosaic Klinefelter's syndrome

Raphael Ron-El, Devorah Strassburger, Soli Gelman-Kohan, Shevach Friedler, Arie Raziel, Zvi Appelman

Research output: Contribution to journalArticlepeer-review

104 Scopus citations

Abstract

The birth of 12 healthy infants to fathers with non-mosaic Klinefelter's syndrome has been reported so far. The spermatozoa for these pregnancies was obtained from frozen-thawed ejaculate in one pregnancy (twins) and from the testis in the remaining 10 infants. All of them had a normal karyotype. We describe a patient with non-mosaic Klinefelter's syndrome from whom a testicular biopsy was obtained and motile spermatozoa were collected. Of 16 oocytes that were injected, 14 fertilized and cleaved. Three embryos were transferred, resulting in a triplet pregnancy. Karyotype analysis from chorionic villous sampling revealed 46,XX, 46,XY and 46,XXY from the three fetuses. The affected 46,XXY fetus was reduced on the 14th gestational week. The pregnancy culminated with the birth of a healthy male and female, on the 36th gestational week, weighing 3600 and 2660 g respectively. This case report proves the presence of hyperploid spermatozoa in the seminiferous lumen, and strengthens the necessity of genetic diagnosis of the embryos or fetuses in such pregnancies to fathers with non-mosaic Klinefelter's syndrome.

Original languageEnglish
Pages (from-to)1804-1806
Number of pages3
JournalHuman Reproduction
Volume15
Issue number8
StatePublished - 1 Jan 2000
Externally publishedYes

Keywords

  • Azoospermia
  • Intracytoplasmic injection
  • Klinefelter's syndrome
  • Testicular biopsy

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynecology

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