Turner Syndrome: results of the first Tunisian study group on Turner Syndrome (TuSGOT)
| العنوان: | Turner Syndrome: results of the first Tunisian study group on Turner Syndrome (TuSGOT) |
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| المؤلفون: | Leila Essaddam, Ons Zitouni, Lilia Kraoua, Madiha Trabelsi, Hella Sassi, Sana Kmiha, Fatma Charfi, Dorra El Guiche, Raoudha Kebaïli, Nesrine Jaballah, Maroua Rjeb, Noura Zouari, Yasmina El Aribi, Syrine Hizem, Salmen Wannes, Ibtihel Fkih Romdhane, Mohamed Tahar Sfar, Hechmi Ben Hamouda, Radhia Hadj Salem, Zied Khlayfia, Tarek Khmiss, Kamel Monastiri, Nadia Siala, Slaheddine Chouchane, Habib Souaa, Inès Khochtali, Bahri Mahjoub, Habib Sfar, Lamia Ben Jemâa, Saoussen Abroug, Lamia Boughamoura, Inès Kamoun, Thouraya Kamoun, Ridha Mrad, Saayda Ben Becher |
| المصدر: | Journal of Pediatric Endocrinology and Metabolism. |
| بيانات النشر: | Walter de Gruyter GmbH, 2023. |
| سنة النشر: | 2023 |
| مصطلحات موضوعية: | Endocrinology, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health |
| الوصف: | Objectives Early diagnosis in Turner syndrome is desirable to optimize growth and puberty and yet, it is often made late. Here, we aim to identify age at diagnosis, clinical features at presentation and potential strategies to improve the care of TS girls. Methods Retrospective study, including patients from 14 care centers across Tunisia including neonatal and pediatric care units, adult endocrinology and genetics departments. Results We identified 175 patients with TS, karyotype showing 45, xmonosomy in 83(47.4 %) with mosaicism in 37(20 %). Mean ± SD, median (range) age at diagnosis available in 173 patients was 13 ± 9.2,12 (birth-48) years. The diagnosis was antenatal in 4(2.3 %), from birth-2 years in 14 (8 %)with lymphoedema (8)and dysmorphic features (9),2–12 years in 53 (35.5 %) including 35 with short stature, 13–18 years in 43(28.8 %) with short stature(28) and delayed puberty(14) and 35(23.5 %) after 18 years, related to ovarian insufficiency (20) and short stature (11). The associated malformations were cardiac in 14 (12.8 %), renal in 22 (19.6 %). A total of 56 girls (32 %) had proven gonadal dysgenesis and 13 (7 %) had otological problems. Parental height was available in 71 girls (40 %) of whom 59 were below the lower end of parental target range (LTR) (83 %). Conclusions This first Tunisian multicenter study, the first African of its kind, reveals that more than half of Turner syndrome cases are diagnosed after the age of 12 years. Subsequently, national strategies for an earlier TS diagnosis are needed such as measuring and plotting parental heights as well as introducing a systematic height screening at 5 years in Tunisia with a view to carrying out a re-audit in five years’ time. |
| تدمد: | 2191-0251 0334-018X |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_________::b15567b24b1ac497acfb79bc72641173Test https://doi.org/10.1515/jpem-2022-0360Test |
| رقم الانضمام: | edsair.doi...........b15567b24b1ac497acfb79bc72641173 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 21910251 0334018X |
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