Abnormal Y chromosome detection in infertile males using multiplex ligation‐dependent probe amplification. (18th November 2021)

• Record Type: Journal Article
• Authors: Dai, Xiaoying; Shi, Fu; Cheung, Cindy Ka Yee; Li, Jue; Lin, Shengmou
• Is Part Of: Andrologia. Volume 54:Number 2(2022)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2021-11-18
• Subjects: infertility -- multiple ligation probe amplification -- Y chromosome; Andrology -- Periodicals; Infertility, Male -- Periodicals; 616.69
• DOI: 10.1111/and.14316
• Languages: English
• ISSNs: 0303-4569

Abstract

Abstract: 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.