The Occurrence of Dysembryogenesis Variants in Uzbek Girls with SHereshevsky-Turner Syndrome

Aim: To determine the rate of occurrence dysembryogenesis variants in Uzbek girls with Shereshevsky-Turner syndrome.

Methods: We examined 46 Uzbek girls with Shereshevsky-Turner syndrome aged from 8 to 18 (mean age: 14.6 ± 0.38 years) with mean height 132.8 ± 1.21 cm. Clinical-cytogenetic investigations were performed with ultrasound examination of small pelvis organs, heart and kidneys.

Results: One hundred per cent growth delay was found in all patients (-3.9 ± 0.26SDS), being marked in puberty age girls (-4.3 ± 0.54SDS). Gonadal dysgenesis was found in 93.7%. Cytogenetic investigation helped diagnose monosomy and mosaicism in 25 (54.3%) and 21 (45.7%) girls. We have managed to reveal the following variants of dysembryogenesis. Congenital hearing loss and otopyosis were found in 40% of examinees with hearing problems; 2% of girls having congenital heart disease (aortic stenosis, patent ductus arteriosus). 27% of examinees had kidney pathologies, such as, kidney salt masses, supplemental chord and solitary kidney; in 24% psychomotor retardation and oligophrenia being registered. Autoimmune thyroiditis was found in 37.4% of girls with Shereshevsky-Turner syndrome to be the Uzbek population feature. Ultrasound examination demonstrated III degree uterine hypoplasia in 66.3% with mosaicism; 90% of patients with monosomy had ametria. Spontaneous puberty was observed in 9.7% of girls only.

Conclusions: Irrespective to chromosomal aberrations in Uzbek girls with Shereshevsky-Turner syndrome 100% growth delay was found, 93.5% having gonadal dysgenesis. The most pronounced manifestations of phenotypic signs and variants of dysembryogenesis were found in girls with monosomy. Percentage of disturbances in hearing system (40%) and kidneys (27%) was the highest. The feature of Uzbek population, autoimmune thyroiditis was registered in 37.4% of girls.