Molecular genetic analysis of 1,980 cases of male infertility

Fu,Meimei; Chen,Meihuan; Guo,Nan; Lin,Min; Li,Ying; Huang,Hailong; Cai,Meiying; Xu,Liangpu

doi:10.3892/etm.2023.12044

Molecular genetic analysis of 1,980 cases of male infertility

Authors:
- Meimei Fu
- Meihuan Chen
- Nan Guo
- Min Lin
- Ying Li
- Hailong Huang
- Meiying Cai
- Liangpu Xu
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Affiliations: Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defects, Fuzhou, Fujian 350001, P.R. China
Published online on: May 26, 2023 https://doi.org/10.3892/etm.2023.12044
Article Number: 345
Copyright: © Fu et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

The present study aimed to investigate the occurrence of chromosomal karyotype abnormalities and azoospermia factor (AZF) microdeletion on the long arm of the Y chromosome (Yq) in infertile men, and to determine their association with infertility to ultimately improve clinical outcomes in these patients. A total of 1,980 azoospermic and oligospermic men from the outpatient department of the Fujian Maternity and Child Health Hospital (Fuzhou, China) were recruited between January 2016 and December 2019. Peripheral blood was used for karyotype analysis; AZF microdeletion analysis of the Yq was performed using capillary electrophoresis. Among the 1,980 patients, 178 had chromosomal abnormalities (9.0%; 178/1,980), of whom 98 had an abnormal number of chromosomes. Among the abnormal karyotypes, the most common was 47, XXY (80/178; 44.9%). AZF microdeletion on the Yq occurred at a rate of 10.66% (211/1,980); the most common type was the AZFb/c deletion (sY1192; 140/211; 66.4%). The present findings showed that karyotype abnormalities and AZF gene microdeletion are important drivers of male infertility. Specifically, men with Yqh‑ and del(Y)(q11) had a higher risk of AZF microdeletion. These results suggested that patient treatment could be personalized based on routine molecular genetic analysis, which could further alleviate the economic and emotional burden of undergoing redundant or ineffective treatments.

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