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KMID : 1033620210480040283
Clinical and Experimental Reproductive Medicine
2021 Volume.48 No. 4 p.283 ~ p.294
Update on genetic screening and treatment for infertile men with genetic disorders in the era of assisted reproductive technology
Lee Seung-Ryeol

Lee Tae-Ho
Song Seung-Hun
Kim Dong-Suk
Choi Kyung-Hwa
Lee Jae-Ho
Kim Dae-Keun
Abstract
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.
KEYWORD
Azoospermia, Genetics, Infertility, Spermatozoa
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