Li You-Zhu, Wu Rong-Feng, Zhu Xing-Shen, Liu Wen-Sheng, Ye Yuan-Yuan, Lu Zhong-Xian, Li Na
Reproductive Medicine Center, The First Affiliated Hospital of Xiamen University, No. 6 Guchengxi Road, Si Ming, Xiamen, 361003 China.
School of Pharmaceutical Sciences, Xiamen University, Xiamen, 361005 Fujian China.
Mol Cytogenet. 2020 Jun 22;13:24. doi: 10.1186/s13039-020-00495-1. eCollection 2020.
Male infertility is an increasing medical concern worldwide. In most cases, genetic factors are considered as the main cause of the disease. Globozoospermia (MIM102530) (also known as round-headed sperm) is a rare and severe malformed spermatospermia caused by acrosome deficiency or severe malformation. A subset of genetic mutations, such as and related to globozoospermia, have been reported in the past few years. The mutation is commonly found in patients with globozoospermia. Herein, a 180-kbp homozygote deletion at 12q14.2 (g.63950001-64130000) was identified by copy number variation sequencing (CNVseq) in a patient with a globozoospermia, including the complete deletion of .
A 27-year-old patient at the First Affiliated Hospital of Xiamen University was diagnosed with infertility because, despite normal sexual activity for 4 years, his wife did not conceive. The patient was in good health with no obvious discomfort, no history of adverse chemical exposure, and no vices, such as smoking and drinking. The physical examination revealed normal genital development. However, semen tests showed a normal sperm count of 0% and the morphology was the round head. Sperm cytology showed that acrosomal enzyme was lower than normal. Reproductive hormones were in the normal range. B ultrasound did not show any abnormal seminal vesicle, prostate, bilateral testis, epididymis, and spermatic veins. The karyotype was normal, 46, XY, and no microdeletion of Y chromosome was detected. However, a homozygous deletion mutation was found in , which was further diagnosed as globozoospermia.
The present study reported a male infertility patient who was diagnosed with globozoospermia. The analysis of gene mutations revealed that had a homozygous mutation, which was the primary cause of globozoospermia.
男性不育是全球范围内日益受到关注的医学问题。在大多数情况下，遗传因素被认为是该疾病的主要原因。圆头精子症（MIM102530）（也称为圆头精子）是一种罕见且严重的精子畸形症，由顶体缺乏或严重畸形引起。在过去几年中，已经报道了一些与圆头精子症相关的基因突变子集，例如 和 。 突变在圆头精子症患者中很常见。在此，通过拷贝数变异测序（CNVseq）在一名圆头精子症患者中鉴定出12q14.2处的180-kbp纯合缺失（g.63950001-64130000），包括 的完全缺失。
厦门大学附属第一医院的一名27岁患者因不育被诊断出来，尽管其有4年正常的性生活，但其妻子仍未怀孕。该患者身体健康，无明显不适，无不良化学物质接触史，也无吸烟、饮酒等不良嗜好。体格检查显示生殖器发育正常。然而，精液检查显示精子计数正常为0%，形态为圆头。精子细胞学检查显示顶体酶低于正常水平。生殖激素在正常范围内。B超未显示精囊、前列腺、双侧睾丸、附睾和精索静脉有任何异常。核型正常，为46, XY，未检测到Y染色体微缺失。然而，在 中发现了一个纯合缺失突变，该患者被进一步诊断为圆头精子症。
本研究报告了一名被诊断为圆头精子症的男性不育患者。基因突变分析显示 存在纯合突变，这是圆头精子症的主要原因。
