Y chromosome abnormalities are the leading cause of male infertility. The clinical detection of abnormalities is necessary for appropriate genetic counselling. This study describes the prevalence, distribution and characteristics of Y chromosome abnormalities, which should be considered in the clinical management of infertile males. A total of 121 patients with oligozoospermia, 120 with azoospermia and 88 normal individuals were recruited between June 2019 and July 2021. Y chromosome microdeletions were assessed using multiplex ligation‐dependent probe amplification (MLPA). The abnormal Y chromosome prevalence was 30.70%, and it was most common in patients aged 26–40 years. The frequencies of azoospermia factor (AZF) deletion, duplication and deletions/duplications were 19.76%, 9.42% and 1.52% respectively. The most common abnormalities were AZFc deletion (19.80%), AZFc partial deletion (40.59%) and AZFc partial duplication (17.82%). Oligozoospermia was associated with an increased incidence of AZF deletion. In the subgroup analysis, patients <30 years old with azoospermia exhibited elevated follicle‐stimulating hormone levels and oestradiol. Moreover, the incidence of AZF deletion was higher in those with azoospermia (OR: 2.12; 95% CI: 1.05–5.28; p = 0.023) or oligozoospermia (OR: 2.54; 95% CI: 1.13–5.79; p = 0.008) than in normal individuals for ages ≥30 years.
We first reported the 15q24 microdeletion syndrome screened by MLPA in Chinese population, and we also considered that the technique of MLPA with a suitable kit and probe could screen such a rare microdeletion quickly, economically, and efficiently.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.