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Abstract

Volume 24, Issue 3 (May 2022) 24, 231–237; 10.4103/aja202198

Genetic pathogenesis of acephalic spermatozoa syndrome: past, present, and future

Yu Wang1,2,3,4, Ming-Fei Xiang1,2,3,4, Na Zheng1,2,3,4, Yun-Xia Cao1,2,3,4, Fu-Xi Zhu1,2,3,4

1 Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei 230022, China
    2 NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, Hefei 230032, China
    3 Key Laboratory of Population Health Across Life Cycle, Anhui Medical University, Ministry of Education of the People's Republic of China, Hefei 230032, China
    4 Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei 230022, China

Correspondence: Dr. YX Cao (caoyunxia6@126.com) or Dr. FX Zhu (fxzhu@ahmu.edu.cn)

21-Jan-2022

Abstract

Acephalic spermatozoa syndrome (ASS) is one of the most severe spermatogenic failures of all infertility in men. The cognition of ASS has experienced a tortuous process. Over the past years, with the in-depth understanding of spermatogenesis and the emergence of new genetic research technologies, the unraveling of the genetic causes of spermatogenic failure has become highly active. From these advances, we established a genetic background and made significant progress in the discovery of the genetic causes of ASS. It is important to identify pathogenic genes and mutations in ASS to determine the biological reasons for the occurrence of the disease as well as provide genetic diagnosis and treatment strategies for patients with this syndrome. In this review, we enumerate various technological developments, which have made a positive contribution to the discovery of candidate genes for ASS from the past to the present. Simultaneously, we summarize the known genetic etiology of this phenotype and the clinical outcomes of treatments in the present. Furthermore, we propose perspectives for further study and application of genetic diagnosis and assisted reproductive treatment in the future.
    
    Keywords: acephalic spermatozoa syndrome; genetic pathogenesis; male infertility
    
    

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