Clinical and Experimental Reproductive Medicine

  • 제48권4호
  • /
  • Pages.283-294
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  • 2021
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  • 2233-8233(pISSN)
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  • 2233-8241(eISSN)
대한생식의학회 (The Korean Society for Reproductive Medicine)
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Update on genetic screening and treatment for infertile men with genetic disorders in the era of assisted reproductive technology

  • Lee, Seung Ryeol (Department of Urology, CHA Bundang Medical Center, CHA University) ;
  • Lee, Tae Ho (Department of Urology, Fertility Center, CHA Gangnam Medical Center, CHA University) ;
  • Song, Seung-Hun (Department of Urology, Fertility Center, CHA Gangnam Medical Center, CHA University) ;
  • Kim, Dong Suk (Department of Urology, Fertility Center, CHA Gangnam Medical Center, CHA University) ;
  • Choi, Kyung Hwa (Department of Urology, CHA Bundang Medical Center, CHA University) ;
  • Lee, Jae Ho (Department of Biomedical Science, College of Life Science, CHA University) ;
  • Kim, Dae Keun (Department of Urology, CHA Fertility Center Seoul Station, CHA University School of Medicine)
  • 투고 : 2021.03.01
  • 심사 : 2021.07.08
  • 발행 : 2021.12.31
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초록

A genetic etiology of male infertility is identified in fewer than 25% of infertile men, while 30% of infertile men lack a clear etiology, resulting in a diagnosis of idiopathic male infertility. Advances in reproductive genetics have provided insights into the mechanisms of male infertility, and a characterization of the genetic basis of male infertility may have broad implications for understanding the causes of infertility and determining the prognosis, optimal treatment, and management of couples. In a substantial proportion of patients with azoospermia, known genetic factors contribute to male infertility. Additionally, the number of identified genetic anomalies in other etiologies of male infertility is growing through advances in whole-genome amplification and next-generation sequencing. In this review, we present an up-to-date overview of the indications for appropriate genetic tests, summarize the characteristics of chromosomal and genetic diseases, and discuss the treatment of couples with genetic infertility by microdissection-testicular sperm extraction, personalized hormone therapy, and in vitro fertilization with pre-implantation genetic testing.

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참고문헌

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