Turner syndrome: results of the first Tunisian study group on Turner syndrome (TuSGOT).
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Essaddam Leila, Zitouni Ons, Kraoua Lilia, Trabelsi Madiha, Sassi Hella, Kmiha Sana, Charfi Fatma, El Guiche Dorra, Kebaïli Raoudha, Jaballah Nesrine, Rjeb Maroua, Zouari Noura, El Aribi Yasmina, Hizem Syrine, Wannes Salmen, Fkih Romdhane Ibtihel, Sfar Mohamed Tahar, Ben Hamouda Hechmi, Hadj Salem Radhia, Khlayfia Zied, Khmiss Tarek, Monastiri Kamel, Siala Nadia, Chouchane Slaheddine, Souaa Habib, Khochtali Inès, Mahjoub Bahri, Sfar Habib, Ben Jemâa Lamia, Abroug Saoussen, Boughamoura Lamia, Kamoun Inès, Kamoun Thouraya, Mrad Ridha, Ben Becher Saayda
Аннотация
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.