Oxidative balance disorders as a factor of formation and progression of hypoandrogenism in boys

Abstract

Objective — to study the features of the phenotype of adolescent boys with hypoandrogenism and hereditary burdened disorders of the reproductive system. Materials and methods. The analysis of pedigrees was carried out in 45 families of adolescent boys 12—17 years old with hypoandrogenism (HA) and burdened family history of reproductive system disorders, which were examined in the laboratory of medical genetics of the State Institution «CAHC NAMS». The control group consisted of 47 families of healthy peers, residents of Kharkiv and Kharkiv region.The presence of minor developmental anomalies (MDA) was assessed in adolescent boys with HA. The comparison groups consisted of adolescent boys with systemic connective tissue dysplasia (CTD) and healthy adolescent boys with normal physical and sexual development, examined by specialists of the institute. Mathematical calculations were carried out using statistical programs Excel and SPSS Statistics 17.0. To determine the significance of differences between the groups, the Student’s t-test was used. To assess the likelihood of sexual dysfunction development in younger family members, the odds ratio indicator was calculated. Results and discussion. Hereditary burden on reproductive system disorders was registered in 66.7 % of families of adolescent boys with HA. Inheritance of pathological traits in generations was observed with the same frequency in the paternal (33.7 %), maternal (30.0 %) and both (paternal and maternal) lines simultaneously (36.2 %). Fathers of boys had delayed sexual development in puberty twice as often as mothers (26.7 vs 13.3 %, p < 0.05), and four times more often in comparison with the frequency in the population (2.5—9.8 %). In the presence of hereditary burden on reproductive diseases, the risk of development of sexual development disorders in other relatives increased in 21.5 times.Assessment of phenotype of adolescent boys with HA showed that 65.0% of patients had an average level of minor developmental abnormalities (from 7 to 10 MDA); high level (more than 14 MDA) was not observed. The majority of MDA were revealed in the craniofacial zone (57.3 %). When compared with healthy peers, boys with HA more often had average and elevated MDA levels. Patients with HA in comparison with boys with MDA less often demonstrated the dysmorphic auricles, spinal deformity, dysplastic tooth growth, up-slanting palpebral fissures and ocular hypertelorism, and more often the sandal gap. Conclusions. The findings indicate the familial accumulation of reproductive system disorders and increased risk of these disorders development in other children in these families. Among the examined adolescent boys with HA, 65.0 % had an average level of minor developmental abnormalities and an unclassified phenotype, which may indicate a lower severity of connective tissue dysplasia in the patient group.