GENETIC FACTORS OF MALE INFERTILITY, THEIR COMBINATIONS AND THE SPERMATOLOGICAL CHARACTERISTICS OF MEN WITH FERTILITY FAILURES
The objective is to study the occurrence of common genetic factors of male infertility in men with reproductive problems, their combinations and spermatological characteristics.Materials and methods. 393 men with infertility in marriage were examined. According to the results of the cytogenetic stud...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | Russian |
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ABV-press
2018-08-01
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| Series: | Андрология и генитальная хирургия |
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| Online Access: | https://agx.abvpress.ru/jour/article/view/289 |
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| author | N. Yu. Safina T. A. Yamandi V. B. Chernykh L. V. Akulenko S. V. Bogolyubov I. I. Vityazeva O. P. Ryzhkova A. A. Stepanova T. A. Adyan E. A. Bliznets A. V. Polyakov |
| author_facet | N. Yu. Safina T. A. Yamandi V. B. Chernykh L. V. Akulenko S. V. Bogolyubov I. I. Vityazeva O. P. Ryzhkova A. A. Stepanova T. A. Adyan E. A. Bliznets A. V. Polyakov |
| author_sort | N. Yu. Safina |
| collection | DOAJ |
| description | The objective is to study the occurrence of common genetic factors of male infertility in men with reproductive problems, their combinations and spermatological characteristics.Materials and methods. 393 men with infertility in marriage were examined. According to the results of the cytogenetic study, the sample is divided into 3 groups: 135 men with numerical sex chromosome abnormalities; 58 male patients with a balanced structural rearrangement; 200 men with normal karyotype. Y chromosome microdeletions, CFTR gene mutations and CAG-repeats polymorphism of AR gene were analyzed.Results. The Y-chromosome microdeletions partially AZFc deletions were detected in 13 % male patients with sex chromosome abnormalities. A combination of chromosomal abnormalities with AZF deletions and/or CFTR gene mutations and long CAG repeats of AR gene was found in 19 % infertile men with balanced chromosome rearrangements. Infertile men with normal male karyotype presented the frequency of common genetic factors of male infertility was almost 2 times higher than the combined frequency of these factors in groups of patients with chromosomes abnormalities. Azoospermia in men with normal karyotype and patients with chromosome abnormalities was diagnosed with the same frequency (58 %). In all men who have identified the presence of two or more genetic factors of male infertility, severe forms of pathozoospermia (azoospermia and severe oligozoospermia) were found.Conclusion. The combination of genetic factors of male infertility is accompanied by severe forms of pathozoospermia that indicates a possible additive effect of negative effect on spermatogenesis and male fertility. |
| first_indexed | 2024-04-10T03:52:49Z |
| format | Article |
| id | doaj.art-8bea55c59c3b49fc8aee7134fa7d8b48 |
| institution | Directory Open Access Journal |
| issn | 2070-9781 |
| language | Russian |
| last_indexed | 2024-04-10T03:52:49Z |
| publishDate | 2018-08-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Андрология и генитальная хирургия |
| spelling | doaj.art-8bea55c59c3b49fc8aee7134fa7d8b482023-03-13T07:15:09ZrusABV-pressАндрология и генитальная хирургия2070-97812018-08-01192405110.17650/2070-9781-2018-19-2-40-51269GENETIC FACTORS OF MALE INFERTILITY, THEIR COMBINATIONS AND THE SPERMATOLOGICAL CHARACTERISTICS OF MEN WITH FERTILITY FAILURESN. Yu. Safina0T. A. Yamandi1V. B. Chernykh2L. V. Akulenko3S. V. Bogolyubov4I. I. Vityazeva5O. P. Ryzhkova6A. A. Stepanova7T. A. Adyan8E. A. Bliznets9A. V. Polyakov10A.I. Evdokimov Moscow State University of Medicine and Dentistry, Ministry of Health of RussiaA.I. Evdokimov Moscow State University of Medicine and Dentistry, Ministry of Health of RussiaResearch Centre for Medical Genetics; N.I. Pirogov Russian National Research Medical University, Ministry of Health of RussiaA.I. Evdokimov Moscow State University of Medicine and Dentistry, Ministry of Health of RussiaNational Medical Research Center of Endocrinology, Ministry of Health of RussiaNational Medical Research Center of Endocrinology, Ministry of Health of RussiaResearch Centre for Medical GeneticsResearch Centre for Medical GeneticsResearch Centre for Medical GeneticsResearch Centre for Medical GeneticsResearch Centre for Medical GeneticsThe objective is to study the occurrence of common genetic factors of male infertility in men with reproductive problems, their combinations and spermatological characteristics.Materials and methods. 393 men with infertility in marriage were examined. According to the results of the cytogenetic study, the sample is divided into 3 groups: 135 men with numerical sex chromosome abnormalities; 58 male patients with a balanced structural rearrangement; 200 men with normal karyotype. Y chromosome microdeletions, CFTR gene mutations and CAG-repeats polymorphism of AR gene were analyzed.Results. The Y-chromosome microdeletions partially AZFc deletions were detected in 13 % male patients with sex chromosome abnormalities. A combination of chromosomal abnormalities with AZF deletions and/or CFTR gene mutations and long CAG repeats of AR gene was found in 19 % infertile men with balanced chromosome rearrangements. Infertile men with normal male karyotype presented the frequency of common genetic factors of male infertility was almost 2 times higher than the combined frequency of these factors in groups of patients with chromosomes abnormalities. Azoospermia in men with normal karyotype and patients with chromosome abnormalities was diagnosed with the same frequency (58 %). In all men who have identified the presence of two or more genetic factors of male infertility, severe forms of pathozoospermia (azoospermia and severe oligozoospermia) were found.Conclusion. The combination of genetic factors of male infertility is accompanied by severe forms of pathozoospermia that indicates a possible additive effect of negative effect on spermatogenesis and male fertility.https://agx.abvpress.ru/jour/article/view/289azoospermiadisomy ymale infertilityoligozoospermiaklinefelter syndromechromosomal abnormalitiesarazfcftr |
| spellingShingle | N. Yu. Safina T. A. Yamandi V. B. Chernykh L. V. Akulenko S. V. Bogolyubov I. I. Vityazeva O. P. Ryzhkova A. A. Stepanova T. A. Adyan E. A. Bliznets A. V. Polyakov GENETIC FACTORS OF MALE INFERTILITY, THEIR COMBINATIONS AND THE SPERMATOLOGICAL CHARACTERISTICS OF MEN WITH FERTILITY FAILURES Андрология и генитальная хирургия azoospermia disomy y male infertility oligozoospermia klinefelter syndrome chromosomal abnormalities ar azf cftr |
| title | GENETIC FACTORS OF MALE INFERTILITY, THEIR COMBINATIONS AND THE SPERMATOLOGICAL CHARACTERISTICS OF MEN WITH FERTILITY FAILURES |
| title_full | GENETIC FACTORS OF MALE INFERTILITY, THEIR COMBINATIONS AND THE SPERMATOLOGICAL CHARACTERISTICS OF MEN WITH FERTILITY FAILURES |
| title_fullStr | GENETIC FACTORS OF MALE INFERTILITY, THEIR COMBINATIONS AND THE SPERMATOLOGICAL CHARACTERISTICS OF MEN WITH FERTILITY FAILURES |
| title_full_unstemmed | GENETIC FACTORS OF MALE INFERTILITY, THEIR COMBINATIONS AND THE SPERMATOLOGICAL CHARACTERISTICS OF MEN WITH FERTILITY FAILURES |
| title_short | GENETIC FACTORS OF MALE INFERTILITY, THEIR COMBINATIONS AND THE SPERMATOLOGICAL CHARACTERISTICS OF MEN WITH FERTILITY FAILURES |
| title_sort | genetic factors of male infertility their combinations and the spermatological characteristics of men with fertility failures |
| topic | azoospermia disomy y male infertility oligozoospermia klinefelter syndrome chromosomal abnormalities ar azf cftr |
| url | https://agx.abvpress.ru/jour/article/view/289 |
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