The objectiveis 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.
Приводятся данные обследования мужчин с азооспермией и олигозооспермией тяжелой степени, имеющих и не имеющих микроделеции длинного плеча Y-хромосомы, а также результаты биопсии тестикулярной ткани. Отсутствие делеций региона AZF, отсутствие гипоплазии яичек, а также нормальные показатели ФСГ, ЛГ и ингибина В являются прогностически благоприятными критериями в отношении успешности получения сперматозоидов при биопсии ткани яичка для проведения экстракорпорального оплодотворения (ЭКО).
The article presents the results of a survey of men with azoospermia and severe oligozoospermia, with and without microdeletion of the long arm of the Y chromosome, as well as the results of a testicular biopsy. The absence of deletions of the AZF region, the absence of testicular hypoplasia, as well as normal levels of FSH, LH and inhibin B are prognostically favorable criteria for the success of obtaining spermatozoa with a biopsy of testicular tissue for in vitro fertilization (IVF).
Генетические причины снижения фертильности у мужчин представлены изменениями генома как отдельными, так и сочетанными. Целью исследования явилось изучение частоты встречаемости генетических факторов, влияющих на репродукцию, их сочетания и фенотипических проявлениий.
Genetic causes of decreased fertility in men are represented by changes in the genome both separate and combined. The aim of the study was to study the frequency of occurrence of genetic factors leading to impaired reproduction, their combination and phenotypic manifestations.
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