Genetic Underpinnings of Oligoasthenoteratozoospermia

ABSTRACT Oligoasthenoteratozoospermia (OAT) is a frequent but severe type of male infertility. As one of the most multifaceted male infertility resulting from sperm problems, its genetic etiology remains unknown in most cases. In this review, we systematically sort out the latest literature on clini...

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Bibliographic Details
Published in:Clinical genetics 2025-03, Vol.107 (3), p.243-260
Main Authors: Feng, Yanting, Liu, Wensheng, Dong, Junbo, Lu, Fei, Wu, Chunyan, Shao, Qingting, Duan, Aizhu, Yang, Xinjie, Sun, Ruipeng, Sha, Yanwei, Wu, Shihao, Wei, Xiaoli
Format: Article
Language:English
Subjects:
Animal models
Animals
Asthenozoospermia - genetics
Axonogenesis
causative genes
Cell culture
Genetic counseling
Genetic Predisposition to Disease
genetic screening
Humans
Infertility
Infertility, Male - genetics
Infertility, Male - pathology
Male
male infertility
Oligoasthenoteratozoospermia
Oligospermia - genetics
Oligospermia - pathology
preimplantation genetic testing
Protein transport
Spermatogenesis - genetics
Spermatozoa - metabolism
Spermatozoa - pathology
Spermiogenesis
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Summary:ABSTRACT Oligoasthenoteratozoospermia (OAT) is a frequent but severe type of male infertility. As one of the most multifaceted male infertility resulting from sperm problems, its genetic etiology remains unknown in most cases. In this review, we systematically sort out the latest literature on clinical reports and animal models leading to OAT, summarise the expression profiles of causative genes for OAT, and highlight the important role of the protein transport system during spermiogenesis, spermatid cell‐specific genes, Golgi and acrosome‐related genes, manchette‐related genes, HTCA‐related genes, and axoneme‐related genes in OAT development. These causative genes would be instrumental in genetic etiological screening, genetic counseling, and pre‐implantation genetic testing of patients with clinical OAT. Oligoasthenoteratozoospermia (OAT) is frequently reported in men from infertile couples and affects more than 30% of all infertile men. The normal morphology and ultrastructure are fundamental to ensure sperm function (A). During Spermiogenesis, germ cells undergo drastic morphological changes and chromatin remodeling. Defects in related genes could lead to OAT and male infertility (B).
ISSN:0009-9163
1399-0004
1399-0004
DOI:10.1111/cge.14652