ECEESPE2025 ePoster Presentations Multisystem Endocrine Disorders (51 abstracts)
Prader-willi syndrome: a 17-year retrospective study on clinical features and genetic findings
Sana Kmiha 1 , Yassmine Mkhinini 1 , Mariem Ammar 1 , Rim Belhadj 1 , Fatma Charfi 1 , Salma Ben Ameur 1 , Imen Chabchoub 1 , Hajer Aloulou 1 , Hassen Kammoun 2 & Thouraya Kammoun 1
1Hedi Chaker University Hospital, Department of Pediatrics A, Sfax, Tunisia; 2Hedi Chaker University Hospital, Genetic Department, Sfax, Tunisia
JOINT2004
Introduction: Prader-Willi syndrome (PWS) is a genetic disorder that exemplifies parental imprinting. It is a complex multisystemic condition with age-dependent phenotypic variability.
Methods: We conducted a descriptive, retrospective study of patients diagnosed with PWS and followed in the Department of Pediatrics A at Hedi Chaker University Hospital over a 17-year period (2008–2024).
Results: Eight patients, ranging in age from birth to 11 years, were included. Seven out of eight presented with dysmorphic features. Neonatal hypotonia was observed in five cases. Delayed motor development was noted in seven patients, and behavioral characteristics typical of PWS were reported in two children. A documented transition between nutritional phases was observed in one patient, while obesity was present in five cases. Endocrine disorders were identified in five patients, with hypogonadism in all of them, including cryptorchidism (5 cases), scrotal hypoplasia (2 cases), and micropenis (3 cases). Adrenal insufficiency was reported in one case, and diabetes in another. Additionally, one patient had epilepsy, and skeletal abnormalities, such as bilateral hip dysplasia, were observed in another. FISH analysis confirmed a deletion at the SNRPN locus in one patient. Methylation studies established the diagnosis in six patients, and whole-exome sequencing identified the condition in one case. Maternal uniparental disomy was detected in one patient, who also had homogeneous Klinefelter syndrome. All patients received multidisciplinary care. Growth hormone therapy was initiated in one patient, with ongoing monitoring. Unfortunately, one patient died due to respiratory failure.
Conclusion: Prader-Willi syndrome is a rare genetic disorder with potentially severe multisystemic complications. This study underscores the critical importance of early diagnosis and a tailored, multidisciplinary management approach.
Volume 110
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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