ArticleTherapeutics and clinical risk management2017
Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study).
Article in Therapeutics and clinical risk management, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.
- Clinical practice guidelines for the care of girls and women with Turner syndrome.European journal of endocrinology · 2024Guideline
- Navigating fertility dilemmas across the lifespan in girls with Turner syndrome-a scoping review.Human reproduction update · 2024Article
- Gonadoblastoma in Turner syndrome with puberty delay: A case report and literature review.Molecular genetics & genomic medicine · 2023Review
- Genetic Basis of Human Congenital Heart Disease.Cold Spring Harbor perspectives in biology · 2020Article
- Associated clinical abnormalities among patients with Turner syndrome.Northern clinics of Istanbul · 2020Article
- Mosaic Turner syndrome shows reduced penetrance in an adult population study.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Psychosocial Characteristics of Women with a Delayed Diagnosis of Turner Syndrome.The Journal of pediatrics · 2018Article
- Histopathological and immunohistochemical changes of the marginal periodontium in patients with Turner syndrome.Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologieArticle
- 49,XXXXY PATIENT AND INCIDENTAL FINDING OF LOW LEVEL MOSAIC 45,X IN THE MOTHER.Acta endocrinologica (Bucharest, Romania : 2005)Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionRecent years have seen a shift in perspective on Turner syndrome, as it is no longer considered a significant disability due to therapeutic advances. The delay of diagnosis and the underdiagnosis are common in Turner syndrome, especially because of the great phenotypic variability and lack of firm diagnostic criteria.
aimOur first aim was to assess the clinical and the cytogenetic characteristics and growth rate in growth hormone (GH)-treated patients as compared to those with spontaneous growth. The second aim was to analyze the Y chromosomal sequences. MATERIALS AND
methodsWe analyzed 45 patients diagnosed with Turner syndrome in Genetic Pathology Centre of Cluj Emergency Children's Hospital. We carried out a study of the clinical features, the correlations between the karyotype and the phenotype, and we also made a research of Y chromosome sequences.
resultsThe average age at diagnosis was 8.9±5.4 years. A significant association was observed between the number of external phenotypical abnormalities and internal malformations (
conclusionThe importance of this study resides, to the best of our knowledge, in the fact that the largest group of patients in Romania was analyzed and assessed. To draw firm conclusions on the most valuable clinical indicators for Turner syndrome diagnosis in clinical practice, studies on large groups of patients should be conducted.
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