Ongoing pregnancy in a couple with nonmosaic klinefelter syndrome after IVF program: a clinical case

Authors

  • A.R. Onlas
  • R.V. Bezrukov
  • G.M. Karibaeva
  • N.M. Dzhusubaliev
  • K.A. Gusseynova
  • M.S. Shishimorova IRM

DOI:

https://doi.org/10.37800/RM.4.2021.59-65

Keywords:

nonmosaic Klinefelter syndrome, pregnancy, in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), azoospermia, hypergonadotropic hypogonadism

Abstract

Relevance: Klinefelter syndrome is a congenital genetic disease in males due to an additional one or more X chromosomes in the karyotype and is characterized by the absence of sperm in the ejaculate (azoospermia). With the advent of assisted reproductive technologies and the introduction of microsurgical operations such as microdissection testicular sperm extraction (micro-TESE), pregnancy has become more accessible for this category of patients.

The purpose of the study is to present a clinical case of pregnancy in the spouse of a patient with nonmosaic Klinefelter syndrome.

Methods: The article describes a clinical case of a successful conception from a man with nonmosaic Klinefelter syndrome after in-vitro fertilization by intracytoplasmic sperm injection (ICSI) method with subsequent preimplantation genetic testing of embryo aneuploidy (PGT-A) through comparative genomic hybridization (array-CGH). Presumably, this is the first case in Kazakhstan described in the literature.

Results: At the time of submission of the article, the wife of a patient with nonmosaic Klinefelter syndrome has a developing uterine singleton pregnancy for 30-31 obstetric weeks.

Conclusion: The development of assisted reproductive technologies, the introduction of micro-TESE in urology made it possible for a patient with the genetic disease – Klinefelter syndrome – to become a biological father. According to the studies, the percentage of healthy children born in such patients reaches 28% worldwide, and their total number already exceeds 150.

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Additional Files

Published

2021-12-30

How to Cite

[1]
Onlas А., Bezrukov Р., Karibaeva Г., Dzhusubaliev Н., Gusseynova К. and Shishimorova М. 2021. Ongoing pregnancy in a couple with nonmosaic klinefelter syndrome after IVF program: a clinical case. Reproductive Medicine. 4 (49) (Dec. 2021), 58–64. DOI:https://doi.org/10.37800/RM.4.2021.59-65.

Issue

No. 4 (49) (2021): Reproductive medicine

Section

Статьи

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