Turner syndrome in children in Ukraine: analysis of incidence. Age of diagnosis and genetic variants
Year: 2015
Type: article
Study design: Observational Study
Abstract: Turner syndrome (TS) is one of the most common genetic disorders associated with abnormalities of the chromosome X.Objective. The purpose of this study was to examine the prevalence TS, frequency of variants of the karyotype, the age of children at diagnosis, degree of stunting.Materials and methods. A retrospective analysis of registration cards 387 girls aged 11 months to 18.2 years from the database of patients TS for the period from 2004 to 2013.Results and discussion. Prevalence TS in Ukraine – 77.5 per 100 000 live births. The average age at diagnosis is TS 9,8±4,7 years [5.1;14.5]. At 1.6% of girls were diagnosed in the first year, 3.5% – at the age of 1-4 years, at 9.3% – at the age of 4-8 years, 18.8% in 8-12 years, in 66.8% – after 12 years. The most commonly diagnosed TS in puberty. Stunting TS girls with an average 3,2±1,08 SD [2.12; 4.28]. Among the options of chromosomal abnormalities in girls with TS in Ukraine most frequent monosomy (45, X) – 60.6%, at least – mosaicism (45 H / 46, XX) – 23.6%, structural abnormalities – 14.4% mosaicism with polysomes and X – 1.3%.Conclusions. Among prevalence TS among the population of Ukraine similarly prevalence in others countries. In Ukraine marked late diagnosis of Turner syndrome in children, with a maximum frequency of the initial registration of cases in puberty. The highest proportion of patients with Turner syndrome (58.3%) have a karyotype with monosomy of chromosome X. In Ukraine, Turner syndrome remains without due attention by pediatricians and other physicians, which does not allow a timely manner to establish the diagnosis and to provide appropriate medical, psychological and social assistance to the child and his family.
Institution: Ministry of Health
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W2979287653