Complex cytogenetic and molecular-genetic analysis of males with spermatogenesis failure

Abstract

Introduction. Infertility is the problem of almost 15 % of married couples. Half of the cases is caused by a «male factor». Commonly, idiopathic oligo and azoospermia are diagnosed in these cases. Genetic reasons of spermatogenesis failure, such as numerical or structural chromosome anomalies and gene mutations that are responsible for fertility often depend on ethnic background of patients [1][2][3][4][5][6][7][8][9][10].Karyotype abnormalities are observed in 4.6 % of men with oligospermia and in 13.7 % patients with azoospermia. Structural chromosomal anom alies are detected in 5.1 % of infertile men, besides, autosomal translocations are the most common in men with oligospermia and changes in gonosomes (sex chromosomes) are more characteristic for persons with azoospermia [10].The genes located on the Y chromosome play an essential role in the control and regulation of spermatogenesis. Microdeletions of AZF locus are one of the most widespread genetic causes of infer tility in men with severe spermatogenetic failure: microdeletions in AZF are diagnosed in 5-11 % individuals with azoospermia, while in oligosper mia -in 2-8 % of cases [4,7,9]. In 12 % of infer tile men mutations of CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene are detected. Furthermore, in these cases uni or bilat eral congenital absence of the vas deferens (CAVD) can be revealed [11].Consequently, previously described genetic factors have the leading role in etiology dysfunc tions of male reproductive system. That is why the purpose of the study was to set the frequency and the spectrum of the chromosomal anomalies, microdeletions of AZF region of Y chromosome and CFTR gene mutations among infertile men from Ukraine.Materials and methods. Eighty idiopathically infertile males, selected out of 260 infertile men, attending the Prycarpatian Center of Human Reproductions, were included in the study. The diagnosed cases of anatomic defects, infectious dis eases, endocrine, immunological infertility were excluded from the studied group. The age of these individuals ranged from 25 to 43 years. An experi enced urologist carried out a detailed anamnesis and clinical examination of every patient. Sperm analysis was performed at least twice at appropriate interval. Based on spermatological analysis results, infertile were subdivided into three groups: 36 (45 %) patients with aspermia (AS), 19 (24 %) patients

Cytogenetic and molecular analyses of de novo translocation dic(9;13)(p11.2;p12) in an infertile male

“…Molecular analyses of the Y chromosome microdeletions in the AZF region, SRY and CFTR genes were performed according to methods described by Huleyuk et al [ 54 ].…”

Range of azoospermia factor (AZF) deletions in men with normal and disturbed spermatogenesis

“…Полная делеция субрегиона AZFc приводит к различному фенотипу, от азооспермии до олигозооспермии [6]. При этом у пациентов с делециями в локусе AZFc и азооспермией при биопсии яичка довольно часто могут быть получены и успешно использованы в циклах ИКСИ тестикулярные сперматозоиды [7,8].…”