ESPE2024 Poster Category 3 Growth and Syndromes (34 abstracts)
Chromosomal abnormalities and phenotypic features in algerian paediatric population with Turner Syndrome.
Rawda Aboura 1 , Asmahane Ladjouze 1 , Yasmine Ouarezki 2 , Adel Djermane 2 , Kahina Mohammedi 3 , Sakina Kherra 4 , Fadila Bouferoua 5 , Soumia Nora Fedala-Haddam 1 , Abdenour Laraba 1 & Zair Bouzerar 1
1University Hospital Center Bab EL Oued, Algiers, Algeria. 2EPH Hassane Badi, Algiers, Algeria. 3EPH Ain Taya, Algiers, Algeria. 4CHU Nafissa Hammoud, Algiers, Algeria. 5CHU Beni Messous, Algiers, Algeria
Turner syndrome (TS) is the most common genetic disorder occurring in 1 / 2500 live-borne girls. It’s characterized by complete or partial loos of one X chromosome associated with short stature and premature ovarian failure. Morbimortality are increased in TS and related to cardiovascular (CV) disease. The aim of this study was to investigate the karyotypes and the phenotypes of a paediatric population with Turner Syndrome.
Methods: A prospective multicentric study was conducted in young girls with a Karyotype proven TS. Mode of initial presentation and main of clinical signs were analyzed.
Results: 173 patients were included, the average age at diagnosis was 7.59 ±4.24 years. Chromosomal analysis demonstrated mosaicism in 61.3% cases, while 29.5% had monosomy and 9.2% chromosome X structural abnormalities. 2% of patients had ring X chromosome and 4 % had a Y chromosome with virilization signs. Short stature was the predominant mode of initial presentation (97%), followed by dysmorphic features, delayed puberty and Bonnevie Ullrich syndrome. The frequency of skeletal deformities was 56%. Vision defects and otologic disorders were found in 20.08% and 22.01% cases respectively. The frequency of congenital heart disease was 31.2%. Life side heart defects were the most common: Bicuspid aortic valve was being detected in 22.5% followed by aortic coarctation (4.6%). Electrocardiogram abnormalities were present in 16.1% without clinical sign. High blood pressure was detected in 26 patients (15%) with 41.7% of non-dipper profile. Primary hypertension was the most common. Aortic dilatation was found in 4 cases, neither aneurysm nor dissection were found. Renal anomalies were present in 11% and horseshoe kidney was the most frequent. Autoimmune disease were diagnosed in 48.45%. cases with autoimmune thyroid disease as the most prevalent. 5% of patients have neurologic disorders as epilepsia. Lipid abnormalities were present in 12.7%. Liver abnormalities haven’t been found in this study. webbed neck, congenital heart defect and kidney abnormalities were significantly more common in patients with karyotype 45 X.
Conclusion: Despite growth delay, patients in our study were diagnosed after the age of 5 years. This leads us to conclude that TS diagnosis must be improved especially in TS patients with mosaicism.
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