Chu Qing-Jun, Hua Rui, Luo Chen, Chen Qing-Jie, Wu Biao, Quan Song, Zhu Yong-Tong
Department of Obstetrics and Gynecology, Center for Reproductive Medicine, Nanfang Hospital/ The First School of Clinical Medicine, Southern Medical University, Guangzhou, 510515, China.
BMC Med Genet. 2017 Sep 6;18(1):98. doi: 10.1186/s12881-017-0456-x.
Chromosomal disorders in non obstructive azoospermia (NOA) may have an important influence on spermatogenesis, which may be reflected by the serum inhibin B levels. Till now, few studies have concerned the relationship of genetic causes and inhibin B in NOA.
In this retrospective study, 322 men with NOA in Center for Reproductive Medicine, Nanfang Hospital, Southern Medical University were collected. The level of follicle stimulating hormone (FSH), inhibin B, Y chromosome microdeletion test (YCMD) and karyotype were measured.
Abnormal karyotypes were present in 38.5% of NOA, and YCMD were present in 18.0%, there was a high correlation between karyotypes and YCMD (χ = 11.892, P < 0.001). The level of inhibin B in chromosomal abnormality from lowest to highest was 46,XX (or 45,X), 47, XXY, mosaics, polymorphisms, inversion and translocation. And the level of inhibin B within Non-AZF a&b region deletion was higher than AZF a&b microdeletion.
According to the level of inhibin B, spermatogenesis in chromosomal abnormality from lowest to highest was 46,XX (or 45,X), 47, XXY, mosaics, polymorphisms, inversion and translocation. And spermatogenesis within Non-AZF a&b region deletion was better than AZF a&b microdeletion.
非梗阻性无精子症（NOA）中的染色体异常可能对精子发生有重要影响，这可能通过血清抑制素B水平反映出来。到目前为止，很少有研究关注NOA中遗传原因与抑制素B的关系。
在这项回顾性研究中，收集了南方医科大学南方医院生殖医学中心的322例NOA男性患者。检测了促卵泡激素（FSH）、抑制素B水平、Y染色体微缺失检测（YCMD）和核型。
38.5%的NOA患者存在核型异常，18.0%存在YCMD，核型与YCMD之间存在高度相关性（χ = 11.892，P < 0.001）。染色体异常中抑制素B水平从低到高依次为46,XX（或45,X）、47,XXY、嵌合体、多态性、倒位和易位。非AZF a&b区域缺失组的抑制素B水平高于AZF a&b微缺失组。
根据抑制素B水平，染色体异常中精子发生从低到高依次为46,XX（或45,X）、47,XXY、嵌合体、多态性、倒位和易位。非AZF a&b区域缺失组的精子发生情况优于AZF a&b微缺失组。
