Nationwide study of Turner syndrome in Ukrainian children: prevalence, genetic variants and phenotypic features
Open accessAbstract
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 0.11-18.2years 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±4.93years.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 4 th and 5 th 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.
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Peripheral lymphedema is thought to contribute to development of nail anomalies such as deeply set, narrow, and hyperconvex nails, affecting 19%-73% of individuals with TS.
“Meanwhile, peripheral lymphedema is thought to contribute to development of nail anomalies such as deeply set, narrow, and hyperconvex nails, affecting 19%-73% of individuals with TS.673,680,681”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [681]
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- Authors
- Zelinska, N., Shevchenko, I., & Globa, E.
- Affiliations
- Ministry of Health (UA)
- Corresponding author
- Globa, Evgenia
- Venue
- Journal of Clinical Research in Pediatric Endocrinology
- Publisher
- Galenos Yayinevi
- Published
- 2018-07-31
- Volume
- 10
- Issue
- 3
- Pages
- 256-263
- ISSN
- 1308-5727 (ISSN-L)
- PMC
- PMC6083464
- OpenAlex
- W2793068549
- Cited by
- 21
- References
- 54
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 4 · 2023: 2 · 2022: 3 · 2021: 5 · 2020: 3 · 2019: 1
- FWCI
- 1.38
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by-nc-nd
- Locations
- Journal of Clinical Research in Pediatric Endocrinology (publishedVersion, cc-by-nc-nd)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Keywords
- Turner syndrome, prevalence, 45,X, mosaicism, X chromosome structural abnormalities, short stature, growth delay, phenotypic traits, age at diagnosis, Ukrainian population, cardiovascular anomalies
- MeSH terms
- Adolescent, Child, Child, Preschool, Female, Humans, Infant, Phenotype, Turner Syndrome, Ukraine, Prevalence, Abnormal Karyotype
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