ORIGINAL RESEARCH article
Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 16 - 2025 | doi: 10.3389/fgene.2025.1573292
This article is part of the Research TopicGenetic Implications in Male Infertility and Advances in Assisted Reproductive Technologies: Towards New Diagnostic and Therapeutic PerspectivesView all articles
Prevalence, Spermatozoa, Hormonal, and Genetic Evaluation of rare mosaic Klinefelter syndrome Patients in Southern China
Provisionally accepted
Derong Li
Yuqing LaiYujuan LiaoJinjie PanYudi LuoYunning LiangBowen Luo*Lingling Zhu
Guosheng Deng
Xiang Li*
Keng Feng
Feifei LeiLiuping Lan- Reproductive Medicine Center, Yulin Maternal and Child Health Care Hospital, Yulin, China
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Background: Klinefelter syndrome (KS) is the most common genetic cause of male infertility in humans. Mosaic KS is a subtype of KS. Due to its low prevalence, the lack of typical clinical signs, and the limited professional awareness of the syndrome, many cases of mosaic KS remain undiagnosed. Objective: To investigate the prevalence of rare mosaic KS, karyotype characteristics, reproductive hormone levels, and sperm quality in southern China, and to enrich our knowledge of patients with mosaic KS. Methods: The chromosome results of 8,110 cases of infertile male patients attending the Reproductive Center of Yulin Maternal and Child Health Hospital from January 2018 to July 2024 were retrospectively analyzed. Semen, sex hormone tests, and Y chromosome microdeletions were analyzed in fourteen selected patients with a diagnosis of mosaic KS. Results： Among the 8,110 male infertility patients, a total of 0.703% (57/8,110) were diagnosed with KS. Of these, 0.530% (43/8,110) had the typical non-mosaic chromosomal karyotype of 47, XXY, while 0.172% (14/8,110) demonstrated mosaicism. Among the fourteen patients diagnosed with mosaic KS, the predominant chromosomal karyotype was 47,XXY/46,XY, observed in eleven patients, accounting for 78.57% of the cases. The semen analysis of individuals with mosaic KS revealed two cases of azoospermia, one case of cryptozoospermia, one case of severe oligospermia, one case of oligospermia, and ten cases of normal sperm. Among the fourteen patients with mosaic KS, four couples underwent assisted reproductive technology at our hospital for fertility assistance. Of these four couples, two successfully gave birth to a healthy child. Conclusion: The prevalence of mosaic KS among male infertility patients in southern China is 0.172% (14/8,110). Patients with mosaic KS may present with various sperm conditions, including azoospermia, cryptozoospermia, severe oligozoospermia, oligozoospermia, and normal sperm. There is a notable correlation between sperm count and the number of abnormal cell karyotypes in these patients; specifically, a higher number of abnormal chromosomal mosaic cells is associated with a lower sperm count. These patients can achieve biological fatherhood through assisted reproductive techniques, and mosaic KS does not appear to impact the success rate of these techniques.
Keywords: Klinefelter syndrome (KS), Chromosomes, male infertility, reproductive hormones, Azoospermia
Received: 08 Feb 2025; Accepted: 19 May 2025.
Copyright: © 2025 Li, Lai, Liao, Pan, Luo, Liang, Luo, Zhu, Deng, Li, Feng, Lei and Lan. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Bowen Luo, Reproductive Medicine Center, Yulin Maternal and Child Health Care Hospital, Yulin, China
Xiang Li, Reproductive Medicine Center, Yulin Maternal and Child Health Care Hospital, Yulin, China
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