New Insights into the Genetics of Spermatogenic Failure: a Review of the Literature

Overview

Journal Hum Genet

Specialty Genetics

Date 2019 Jan 19

PMID 30656449

Citations 39

Authors

Rossella Cannarella

Rosita A Condorelli

Ylenia Duca

Sandro La Vignera

Aldo E Calogero

Affiliations

Soon will be listed here.

Abstract

Genetic anomalies are known to affect about 15% of infertile patients with azoospermia or severe oligozoospermia. Despite a throughout diagnostic work-up, in up to the 72% of the male partners of infertile couples, no etiological factor can be found; hence, the cause of infertility remains unclear. Recently, several novel genetic causes of spermatogenic failure (SPGF) have been described. The aim of this review was to collect all the available evidence of SPGF genetics, matching data from in-vitro and animal models with those in human beings to provide a comprehensive and updated overview of the genes capable of affecting spermatogenesis. By reviewing the literature, we provided a list of 60 candidate genes for SPGF. Their investigation by Next Generation Sequencing in large cohorts of patients with apparently idiopathic infertility would provide new interesting data about their racial- and ethnic-related prevalence in infertile patients, likely raising the diagnostic yields. We propose a phenotype-based approach to identify the genes to look for.

Citing Articles

Mitochondrial dysfunction signatures in idiopathic primary male infertility: a validated proteomics-based diagnostic approach.

Sawaid Kaiyal R, Mukherjee S, Panner Selvam M, Miller A, Vij S, Lundy S Front Reprod Health. 2024; 6:1479568.

PMID: 39726694 PMC: 11669654. DOI: 10.3389/frph.2024.1479568.

A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure.

Guzman-Jimenez A, Gonzalez-Munoz S, Cervan-Martin M, Garrido N, Castilla J, Gonzalvo M Hum Reprod Open. 2024; 2024(4):hoae069.

PMID: 39678461 PMC: 11645127. DOI: 10.1093/hropen/hoae069.

Single nucleotide polymorphisms of CFAP43 and TEX14 associated with idiopathic male infertility in a Vietnamese population.

Dinh T, Phuong Anh N, Thao D, Duy L, Bac N, Quyet P Medicine (Baltimore). 2024; 103(39):e39839.

PMID: 39331878 PMC: 11441965. DOI: 10.1097/MD.0000000000039839.

Molecular characterization of DNAH6 and ATPase6 (Mitochondrial DNA) genes in asthenozoospermia patients in the northern region of India.

Kumar D, Jeena L, Tempe A, Tanwar R, Kumar S BMC Urol. 2024; 24(1):180.

PMID: 39192248 PMC: 11351781. DOI: 10.1186/s12894-024-01505-9.

Behind the Genetics: The Role of Epigenetics in Infertility-Related Testicular Dysfunction.

Crafa A, Cannarella R, Calogero A, Gunes S, Agarwal A Life (Basel). 2024; 14(7).

PMID: 39063558 PMC: 11277947. DOI: 10.3390/life14070803.

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