دورية أكاديمية
Clinical and cytogenetic characteristics of patients diagnosed with Turner syndrome in a clinical genetics service: cross-sectional retrospective study
| العنوان: | Clinical and cytogenetic characteristics of patients diagnosed with Turner syndrome in a clinical genetics service: cross-sectional retrospective study |
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| المؤلفون: | Maurício Rouvel Nunes, Tiago Godói Pereira, Henry Victor Dutra Correia, Simone Travi Canabarro, Ana Paula Vanz, Paulo Ricardo Gazzola Zen, Rafael Fabiano Machado Rosa |
| المصدر: | São Paulo Medical Journal, Vol 139, Iss 5, Pp 435-442 (2021) |
| بيانات النشر: | Associação Paulista de Medicina, 2021. |
| سنة النشر: | 2021 |
| المجموعة: | LCC:Medicine |
| مصطلحات موضوعية: | Turner syndrome, Genetic diseases, inborn, Karyotype, Diagnostic techniques and procedures, X chromosome, Ullrich-Turner syndrome, Monosomy X, Genetic disorders, Medicine |
| الوصف: | ABSTRACT BACKGROUND: Turner syndrome (TS) is a rare genetic disease. Understanding its clinical findings contributes to better management of clinical conditions. OBJECTIVE: To investigate the clinical and karyotypic characteristics of patients diagnosed with TS at two reference services for clinical genetics in southern Brazil. DESIGN AND SETTING: Retrospective cross-sectional study conducted in two clinical genetics services in Porto Alegre (RS), Brazil. METHODS: The sample consisted of 59 patients with TS diagnosed from 1993 to 2019. A review of their medical records was performed and a standard protocol was filled out. RESULTS: The average age of the patients at diagnosis was 15.9 years, and 40.7% were over 13 years old. The largest proportion of them (42.4%) had been referred from an endocrinology department and their constitution was 45,X (40.7%). The most common clinical findings were short stature (85.7%), hypoplastic/ hyperconvex nails (61.2%), low posterior hairline (52.1%) and cubitus valgus (45.8%). There was no difference regarding the presence of short stature (P = 0.5943), number of dysmorphia (P = 0.143), anatomical regions affected and malformations identified through imaging examinations (P = 1.0000), regarding the presence or absence of 45,X constitution. Only 6% of the patients had used growth hormone and 43%, estrogen. CONCLUSION: We found that, in general, patients with TS were being diagnosed late. This has important implications for their treatment. In addition, only a small proportion of the patients were undergoing further examination or evaluation, which appeared to be leading to underdiagnosis of many abnormalities. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1806-9460 1516-3180 |
| Relation: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802021000500435&tlng=en; https://doaj.org/toc/1806-9460 |
| DOI: | 10.1590/1516-3180.2020.0470.r2.110321 |
| URL الوصول: | https://doaj.org/article/769c45560ab14f7f8e33e07a9b8d8524 |
| رقم الأكسشن: | edsdoj.769c45560ab14f7f8e33e07a9b8d8524 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 18069460 15163180 |
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| DOI: | 10.1590/1516-3180.2020.0470.r2.110321 |