Nationwide Study of Turner Syndrome in Ukrainian Children: Prevalence, Genetic Variants and Phenotypic Features

Abstract

Objective: We aimed to investigate the prevalence of Turner syndrome (TS) in the Ukrainian population, the frequency of karyotype variants, the age of children at diagnosis, the degree of short stature and phenotypic features in TS girls.Methods: A retrospective analysis was made in 538 TS girls aged 0.11-18.2 years within the time period of 2005-2015 with detailed examination of 150 patients.Results: The prevalence of TS in Ukraine is 77.5 in 100.000 live female births. The average age at diagnosis is 9.33±4.93 years. The relative proportions of karyotypic abnormalities found were: 45,X (59.3%); mosaicism 45,X/46,XX (22.9%); and structural abnormalities in chromosome X (17.8%). The most frequently encountered findings were growth delay (98.8%), shortening of the 4th and 5th metacarpal bones (74.6%), abnormal nails (73.3%), broad chest (60.7%), short neck (58.6%), hypertelorism of nipples (51.4%), malformations of the cardiovascular (19.6%) and urinary systems (13.8%) and pathology related to vision (20.1%) and hearing (22.0%).Conclusion: In the Ukrainian population, the highest proportion of patients with TS had a karyotype 45,X. TS was accompanied by a lower frequency of malformations of internal organs compared to other countries.

Clinical and cytogenetic characteristics of patients diagnosed with Turner syndrome in a clinical genetics service: cross-sectional retrospective study

“…Microcephaly is uncommon in TS, and only a few cases with this finding have been reported in the literature. 26 Regarding body weight, our patients' BMI was higher than that found in a national study in Ukraine, 27 in which 13.8% of the patients were found to be overweight and 6.9%, obese. In our study, 18.5% and 33.3% of the patients were overweight and obese, respectively.…”

Age at and indication for diagnosis of Turner syndrome in the pediatric population

“…The earliest and largest studies which included patients from the 1960s demonstrated median ages of diagnosis from 14.5 to 15.1 years (Berglund et al, 2019; Schoemaker et al, 2008; Stochholm et al, 2006). More recently a study published in 2018 reported an average age of 9.3 years in a cohort of over 500 girls with TS (Zelinska et al, 2018). However, two previous studies reported similar age distributions as ours, but were based on much smaller cohorts—about a third in size (Apperley et al, 2018; Sävendahl & Davenport, 2000).…”

“…Massa & Vanderschueren-Lodeweyckx, 1991; Noordman et al, 2019;Saikia et al, 2017;Sävendahl & Davenport, 2000;Schoemaker et al, 2008;Simm et al, 2008;Stochholm et al, 2006;Yes ¸ilkaya et al, 2015;Zelinska et al, 2018). Average or median age range was 4.2-18.0 years.…”

Variantes citogenéticas en pacientes con síndrome de Turner diagnosticadas en un hospital de tercer nivel de atención en Ecuador

“…Es llamativo que, en el presente estudio, el grupo de ST por anomalías estructurales puras o en variedad mosaico se diagnosticó más temprano que el resto de los grupos, ya que descripciones realizadas por otros autores, como González y Sepúlveda 13 , señalan que el diagnóstico clínico de ST es sesgado en los casos que no son 45,X porque las características fenotípicas no son muy evidentes. También el estudio de Zelinska et al 14 muestra una edad de diagnóstico más temprana en el grupo de pacientes con monosomía pura que en aquellas con anomalías estructurales. En nuestro estudio, el resultado es singular y puede estar en relación a las características de la muestra estudiada o a la presencia de variantes estructurales que incluyeron duplicaciones, deleciones Xp, marcadores y el frecuente isocromosoma Xq.…”