目标:评估大量不育受试者中遗传因素的患病率,荷尔蒙,和每个改变的超声特征。方法:这项单中心回顾性研究包括因2012年1月至2022年1月评估的少精子症或无精子症进行遗传调查的不育夫妇的男性伴侣。遗传调查包括核型,CFTR基因突变加上IVS8-5T多态性性状的变异,Y染色体微缺失,和下一代测序小组分析与先天性低促性腺激素性腺功能减退症(CHH)相关的基因。结果:总体而言,15.4%(72/466)的患者接收到不孕症的遗传缘由诊断。具体来说,23例患者(31.9%)携带CFTR基因突变,22(30.6%)的核型为47,XXY,14例(19.4%)患者出现Y染色体微缺失,7人(9.7%)有染色体结构异常,和6(8.3%)有CHH。总的来说,80.6%的患者为无精子症,19.4%的患者为少精子症(精子浓度3.5±3.8百万/mL)。几乎所有患者都出现与特定基因型相关的激素改变,而主要的超声改变是睾丸发育不全,钙化/微钙化,附睾增大/高回声。结论:本中心男性不育夫妇遗传异常的患病率为15.4%。CFTR基因致病变异导致更频繁,具有各种临床特征,强调演示文稿的复杂性和异质性。需要进行其他调查以了解环染色体和其他易位等疾病是否与不育有关或为偶然因素。
Objectives: Evaluate the prevalence of genetic factors in a large population of infertile subjects and define the seminological, hormonal, and ultrasonographic features for each alteration. Methods: This single-center retrospective study included male partners of infertile couples undergoing genetic investigations due to oligozoospermia or azoospermia evaluated from January 2012 to January 2022. The genetic investigations consist of
karyotype, CFTR gene mutations plus variant of the IVS8-5T polymorphic trait, Y chromosome microdeletion, and Next Generation Sequencing panel to analyze genes implicated in congenital hypogonadotropic hypogonadism (CHH). Results: Overall, 15.4% (72/466) of patients received a diagnosis of genetic cause of infertility. Specifically, 23 patients (31.9%) harbor mutations in the CFTR gene, 22 (30.6%) have a 47, XXY
karyotype, 14 (19.4%) patients show a Y chromosome microdeletion, 7 (9.7%) have structural chromosomal anomalies, and 6 (8.3%) have CHH. Overall, 80.6% of patients were azoospermic and 19.4% oligozoospermic (sperm concentration 3.5 ± 3.8 million/mL). Almost all patients presented hormonal alterations related to the specific genotype, while the main ultrasound alterations were testicular hypoplasia, calcifications/microcalcifications, and enlarged/hyperechoic epididymis. Conclusions: The prevalence of genetic abnormalities in males of infertile couples was 15.4% in our Center. CFTR gene disease-causing variants resulted in more frequent, with various clinical features, highlighting the complexity and heterogeneity of the presentation. Other investigations are needed to understand if conditions like ring chromosomes and other translocations are related to infertility or are incidental factors.