Turner syndrome is linked to the absence or abnormality of one of the X chromosome leading to haplo-insufficiency of genes involved in the development and maintenance of the ovarian stock in women. The purpose of this study was to establish the clinical, hormonal, cytogenetic and evolutive pattern of Uzbek population with Turner syndrome and to search for correlations between genotype and phenotype. We examined 149 Uzbek girls with Shereshevsky-Turner syndrome aged from 3 month to 44 years at the time of this analysis. Eighteen percent of them were diagnosed in adulthood (greater or equal to 20years). Homogeneous karyotype 45,X was prevalent 54.4%, where as the mosaicism was found in only 41.6% of the patients; structural anomalies were found in 4%. Irrespective to chromosomal aberrations in Uzbek girls with Shereshevsky-Turner syndrome 100% growth delay was found, 93.5% having gonadal dysgenesis. The dysmorphic syndrome was observed in 89.9% of cases; it was significantly more frequent in monosomics. The loss of ovarian function was more severe in case of monosomia compared to other forms. The most pronounced manifestations of phenotypic signs and variants of dysembryogenesis were found in girls with monosomy. Percentage of disturbances in hearing system (39.6%) and kidneys (26.8%) was the highest. We have managed to reveal the following variants of dysembryogenesis. Congenital hearing loss and otopyosis were found in 39.6% of examinees with hearing problems; 2% of girls having congenital heart disease (aortic stenosis, patent ductus arteriosus). 26.8% of examinees had kidney pathologies, such as, kidney salt masses and solitary kidney.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology