Laboratory of Reproductive Biology & Infertility, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine, 1-19, Mukjeong-Dong, Jung-Gu, Seoul 100-380, Korea.
J Assist Reprod Genet. 2012 Jun;29(6):539-46. doi: 10.1007/s10815-012-9748-4. Epub 2012 Mar 29.
To determine the prevalence of Y chromosome microdeletions in infertile Korean men with abnormal sperm counts and to assess the clinical features and frequency of chromosomal abnormalities in Korean patients with microdeletions.
A total of 1,306 infertile men were screened for Y chromosome microdeletions, and 101 of them had microdeletions. These 101 men were then retrospectively studied for cytogenetic evaluation, testicular biopsy and outcomes of IVF and ICSI.
The overall prevalence of Y chromosome microdeletions in infertile men was 7.7% (101/1,306). Most microdeletions were in the AZFc region (87.1%), including deletions of AZFbc (24.7%) and AZFabc (8.9%). All patients with AZFa, AZFbc and AZFabc deletions had azoospermia, whereas patients with an AZFc deletion usually had low levels of sperm in the ejaculate or in the testis tissues. Chromosomal studies were performed in 99 men with microdeletions, 36 (36.4%) of whom had chromosomal abnormalities. Among the infertile men with Y chromosome microdeletions in this study, the incidence of chromosomal abnormality was 48.6% in the azoospermic group and 3.7% in the oligozoospermic group. Among the 69 patients with microdeletions and available histological results, 100.0% of the azoospermic group and 85.7% of the oligozoospermic group had histological abnormalities. The frequency of both chromosomal abnormalities and histological abnormalities was higher in the azoospermic group compared to the oligozoospermic group. Thirty-four ICSI cycles with either testicular (n = 14) or ejaculated spermatozoa (n = 20) were performed in 23 couples with men with AZFc microdeletion. Thirteen clinical pregnancies (39.4%) were obtained, leading to the birth of 13 babies.
The study results revealed a close relationship between microdeletions and spermatogenesis, although IVF outcome was not significantly affected by the presence of the AZFc microdeletion. Nevertheless, Y chromosome microdeletions have the potential risk of being transmitted from infertile fathers to their offspring by ICSI. Therefore, before using ICSI in infertile patients with severe spermatogenic defects, careful evaluations of chromosomal abnormalities and Y chromosome microdeletions screening should be performed and genetic counseling should be provided before IVF-ET.
确定异常精子计数的韩国不育男性的 Y 染色体微缺失流行率，并评估韩国微缺失患者的临床特征和染色体异常频率。
对 1306 名不育男性进行了 Y 染色体微缺失筛查，其中 101 名存在微缺失。然后对这 101 名男性进行了回顾性研究，包括细胞遗传学评估、睾丸活检以及 IVF 和 ICSI 的结果。
不育男性 Y 染色体微缺失的总患病率为 7.7%（101/1306）。大多数微缺失发生在 AZFc 区域（87.1%），包括 AZFbc（24.7%）和 AZFabc（8.9%）缺失。所有 AZFa、AZFbc 和 AZFabc 缺失的患者均无精子症，而 AZFc 缺失的患者通常在精液或睾丸组织中精子水平较低。对 99 名存在微缺失的男性进行了染色体研究，其中 36 名（36.4%）存在染色体异常。在本研究中存在 Y 染色体微缺失的不育男性中，染色体异常的发生率在无精子症组为 48.6%，在少精子症组为 3.7%。在 69 名存在微缺失且可获得组织学结果的患者中，无精子症组的 100.0%和少精子症组的 85.7%存在组织学异常。与少精子症组相比，无精子症组的染色体异常和组织学异常频率更高。23 对夫妇的 34 个 ICSI 周期分别使用睾丸（n=14）或射出精液（n=20）中的精子进行了操作，这些夫妇的男性存在 AZFc 微缺失。获得了 13 例临床妊娠（39.4%），导致 13 名婴儿出生。
研究结果表明微缺失与精子发生密切相关，尽管 AZFc 微缺失的存在对 IVF 结果没有显著影响。然而，Y 染色体微缺失存在通过 ICSI 从不育父亲遗传给后代的潜在风险。因此，在使用 ICSI 治疗严重生精缺陷的不育患者之前，应仔细评估染色体异常和 Y 染色体微缺失筛查，并在 IVF-ET 前提供遗传咨询。
