ESPE2024 Poster Category 2 Growth and Syndromes (39 abstracts)
A clinical follow-up of 46 Algerian patients with Prader Willi-Syndrome and their endocrine profile
Sakina Kherra 1 , Yasmine Ouarezki 2 , Adel Djermanr 2 , Fadila Bouferoua 3 , Meriem Bensalah 4 , Kahina Mohamedi 5 , Sihem Bellouti 1 , Latifa Sfour 6 , Hassiba Sahli 1 , Fatiha Talbi 1 , Zoulikha Zeroual 1 & Asmahane Ldjouze 6
1CHU Nafissa Hamoud Hussein Dey, Algiers, Algeria. 2Hassan Badi Hospital, Algiers, Algeria. 3CHU Beni Messous, Algeirs, Algeria. 4CHU Ain Nadja, Algiers, Algeria. 5Ain Taya Hospital, Algiers, Algeria. 6CHU Lamine Debaghine, Algiers, Algeria
Introduction: Prader-Willi syndrome (PWS) is a rare neurodevelopmental genetic disease caused by the loss of expression of paternally inherited, imprinted genes on chromosome 15q11.2 q13.1, comprising multiple cognitive, behavioral and endocrine abnormalities. The estimated birth prevalence of PWS is approximately 1/15,000 - 25,000 live births
Objective: The aimof this study was to identify clinical features and endocrine disorders of PWS among the Algerian population. We report a multicentric database in a cohort of 46 Children aged 0 to16 years.
Methods: Retrospective multicenter study in which data were collected among six different Algerian hospitals (outpatient clinics), over a period of 17 years (2007 to 2024). The database includes the medical data and endocrine profiles of children and adolescents with Prader-Willi syndrome
Results: median (range) age at diagnosis was 5.1 (0 – 14) years. Seven (17.2 %) were diagnosed in the neonatal period. During the study period there were 03 deaths (6,52 %), related to morbid obesity in 02 cases (4,34 %). At most recent follow-up aged 6,1 (1-16) years, median ± (range) BMI was 23.48± 9,51 (11-56) kg/m2, with 65 % of patient were overweight or obese, with 13 % of morbidly obese, BMI ˃ 40 kg/m². Glucose intolerance was found in 4,34 % of patients, with type 2 diabetes in 02 cases (4,34 %). Growth hormone deficiency was present in 42 patients (93 %) of patients but only 11 (24.4) % were treated, with a height gain of + 1SD and BMI reduction to 20,49 mg/k/m² achieved in the first year of GH treatment. Hypogonadism was present in 34 (75%) of patients and hypothyroidism in 8,68 %. Two patients benefited from treatment with Oxytocin with an effect that was very satisfactory.
Conclusion: We presented our first experience from a clinical follow-up of a 46 of Algerian PWS patients to raise awareness in the medical community and all people about PWS as an important cause of both neonatal hypotonia and syndromic obesity and to characterize the most clinical outcomes in Algeria. This study supports GH and Ocytocine therapy in patients with PWS, reinforcing the positive effects on growth and BMI.
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