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Diagnostics of sperm head morphology genetic abnormalities in primary male infertility
https://doi.org/10.25557/2073-7998.2025.11.126-129
Abstract
Male infertility is often associated with impaired spermatogenesis that leads to a decline in sperm quality and quantity. According to the WHO laboratory manual for the examination and processing of human semen, published in 2021, teratozoospermia is diagnosed if 4% or fewer sperm display normal shapes. Monomorphic teratozoospermia is a group of rare genetic sperm anomalies, leading to male infertility. The results of comprehensive semen and genetic examination of four infertile men with globozoospermia (n=3) and acephalic sperm syndrome (n=1) are presented. WES revealed a homozygous likely pathogenic nonsense DPY19L2 gene mutation (chr12:63976191G>A) and homozygous missense-variants of uncertain significance in the DPY19L2 (chr12:64038264G>A) and the SPATA16 (chr3:172766742 T>C) genes in globozoospermic patients. A patient with acephalic sperm syndrome was found to have two likely pathogenic compound heterozygous variants (chr16:72123598G>A and chr16:72130275G>A) in the PMFBP1 gene.
Supporting agencies: The work was carried out within the framework of the state assignment of the Ministry of Education and Science of Russia for the Research Centre for Medical Genetics
About the Authors
S. Sh. Khayat
Research Centre for Medical Genetics; A.N. Belozersky Research Institute of Physico-Chemical Biology MSU
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115522
E. E. Bragina
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115522; 1-40, Leninskye gory, Moscow, 119992
O. A. Solovova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115522
D. V. Islamgulov
Fomin Clinic
Russian Federation
Russian Federation
52, Kirova st., Ufa, 450078
T. M. Sorokina
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115522
M. I. Shtaut
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115522
O. P. Ryzhkova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115522
V. B. Chernykh
Research Centre for Medical Genetics; Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115522; 1, Ostrovityanova st., Moscow, 117513
References
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Review
For citations:
Khayat S.Sh., Bragina E.E., Solovova O.A., Islamgulov D.V., Sorokina T.M., Shtaut M.I., Ryzhkova O.P., Chernykh V.B. Diagnostics of sperm head morphology genetic abnormalities in primary male infertility. Medical Genetics. 2025;24(11):126-129. (In Russ.) https://doi.org/10.25557/2073-7998.2025.11.126-129
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