Genetics of Male Infertility

Overview

Journal Curr Urol Rep

Publisher Current Science

Specialty Urology

Date 2016 Aug 10

PMID 27502429

Citations 27

Authors

Filipe Tenorio Lira Neto

Phil Vu Bach

Bobby Baback Najari

Philip Shihua Li

Marc Goldstein

Affiliations

Soon will be listed here.

Abstract

While 7 % of the men are infertile, currently, a genetic etiology is identified in less than 25 % of those men, and 30 % of the infertile men lack a definitive diagnosis, falling in the "idiopathic infertility" category. Advances in genetics and epigenetics have led to several proposed mechanisms for male infertility. These advances may result in new diagnostic tools, treatment approaches, and better counseling with regard to treatment options and prognosis. In this review, we focus on clinical aspects of male infertility and the role of genetics in elucidating etiologies and the potential of treatments.

Citing Articles

Association of ESR1 Xba1 (rs9340799) With Male Infertility: A Systematic Review and Meta-Analysis.

Qamar H, Bibi S, Qadeer Z, Muzammil F, Batool M, Aslam S Am J Mens Health. 2025; 19(1):15579883251319134.

PMID: 39989275 PMC: 11848868. DOI: 10.1177/15579883251319134.

CCDC157 is essential for sperm differentiation and shows oligoasthenoteratozoospermia-related mutations in men.

Zheng H, Gong C, Li J, Hou J, Gong X, Zhu X J Cell Mol Med. 2024; 28(7):e18215.

PMID: 38509755 PMC: 10955179. DOI: 10.1111/jcmm.18215.

Evaluation of The 1499T>C Variant in The Gene of Infertile Men with Multiple Morphological Abnormalities of The Sperm Flagella Phenotype: A Case-Control Study.

Poursafari Talemi E, Hosseini S, Gourabi H, Sabbaghian M, Meybodi A Int J Fertil Steril. 2024; 18(2):180-184.

PMID: 38368523 PMC: 10875313. DOI: 10.22074/ijfs.2023.561016.1358.

Genetics of Male Infertility - Present and Future: A Narrative Review.

Sudhakar D, Shah R, Gajbhiye R J Hum Reprod Sci. 2021; 14(3):217-227.

PMID: 34759610 PMC: 8527069. DOI: 10.4103/jhrs.jhrs_115_21.

SPATS1 (spermatogenesis-associated, serine-rich 1) is not essential for spermatogenesis and fertility in mouse.

Capoano C, Ortiz-Laquintana L, Rodriguez-Casuriaga R, Schlapp G, Meikle M, Mulet A PLoS One. 2021; 16(5):e0251028.

PMID: 33945571 PMC: 8096103. DOI: 10.1371/journal.pone.0251028.

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