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.

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We have evaluated the prevalence of the ectopic testicular adrenal rest tissue (TART) among 71 patients at the age varying from 1 to 19 years and compared the visualization techniques (ultrasound examination, MRI) employed to diagnose TART. This condition was revealed in 14.1% of the patients (10/71). One of them presented with the simple virile (SV) form of the disease and 9 with the salt-wasting one. Most cases of TART (9 of the ten) were diagnosed with the help of the ultrasound technique whereas MRI allowed to determine the size of the neoplasms. The study has demonstrated the relationship between TART and 17-OH and PRA (plasma rennin activity) levels at the time of their measurement. Moreover, the relationship between the number of measurements and the PRA level during the last year has been documented. It is concluded that TART most frequently develops in the children given the poorly controlled treatment; the insufficiency of both gluco- and mineralocorticoids is a predetermining but not the sole risk factor of the condition being considered.

The present review is focused on the modern methods for the treatment of male infertility related to obstructive and unobstructive azoospermia. The criteria and prognostic factors for obtaining spermatozoa by means of invasive manipulations on the testicles are considered. Special attention is given to the results of investigations into the state of the AZF-region of Y-chromosome and of the studies of patients presenting with Klinefelter's syndrome. The modern classification of testicular biopsies is presented that allows to discriminate between different forms of compromised spermatogenesis.

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