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Endocrine Abstracts (2024) 99 EP1246 | DOI: 10.1530/endoabs.99.EP1246

ECE2024 Eposter Presentations Late Breaking (127 abstracts)

Insights into beckwith-wiedemann syndrome: exploring the clinical spectrum and tumor surveillance in four case reports

Denisa-Isabella Tănasie 1 , Elena Braha 2 , Camelia Procopiuc 2 , Aura-Madalina Boboc 1,2 , Carmen Iordachescu 2 , Adriana Padure 2 & Iuliana Gherlan 1,2


1"Carol Davila“ University of Medicine and Pharmacy, Bucharest, Romania; 2C.I. Parhon National Institute of Endocrinology, Bucharest, Romania


Introduction: Beckwith-Wiedemann Syndrome (BWS), a genetic imprinting disorder linked to 11p15, showcases overgrowth traits, including macrosomia, macroglossia, and abdominal wall defects. Characterized by specific genotype-phenotype correlations and recognized as a cancer predisposition syndrome (nephroblastoma, hepatoblastoma, neuroblastoma and adrenocortical carcinoma), our four case reports provide insights into varied clinical presentations.

Case reports: Case 1: a 1-year and 4-month-old boy conceived through in vitro fertilization was diagnosed with BWS at 11 months. MLPA detected maternal hypomethylation (11p15-IC2). Notable physical features include macroglossia and a forehead flat hemangioma. Literature supports a 10-fold BWS risk with assisted-reproduction-technology, potentially indicating milder phenotype (Carli D et al, 22). Case 2: We examine a 2-year and 6-month-old girl with suspected BWS identified prenatally due to macroglossia, omphalocele, and polyhydramnios. At 1-day old, she underwent surgical intervention for omphalocele. BWS was confirmed at 6 months through MLPA, revealing the same submolecular type as in case 1 (IC2-LoM). Case 3: We introduce a 2-year and 7-month-old girl. Neonatally, the phenotypic features, with macroglossia, transient hypoglycemia and ear lobe creases raised suspicion of BWS. By 1 year and 6 months, she had surgical reduction for macroglossia, and, over time, the diastasis of the rectus abdominis resolved spontaneously. At 2 years, an orthopedic exam revealed a leg length discrepancy, suggesting shoe lift usage. The patient’s clinical score is 7 points, exceeding the diagnostic threshold for BWS without molecular confirmation (Brioude et al., 18). Case 4: a 1-year and 3-month-old girl presented with neonatal hypoglycemia and hyperinsulinism (elevated insulin and C-peptide levels). Central adrenal insufficiency (low cortisol, lower normal range ACTH) was treated with hydrocortisone. An early ultrasound revealed a left adrenal tumor that later resolved, likely due to adrenal hemorrhage. Genetic tests, including WES and MLPA, showed no evidence of congenital hyperinsulinism or BWS-associated deletions/duplications. Like case 3, the clinical score is 7 points (including macroglossia, ear pits), negating a need for molecular confirmation. Repeated suprarenal ultrasound demonstrated no tumor formations on both sides. In all four cases, the tumor screening consists of serum alpha-fetoprotein (AFP) levels and abdominal ultrasound every three months, were within normal limits. IC2-LoM, found in 2 of our cases is associated with the lowest tumor risk, being the most frequent.

Conclusion: Given the complex genetics and diverse phenotypes associated with BWS, a multidisciplinary team approach is essential. This collaborative effort aims to coordinate various aspects of care throughout childhood, particularly highlighting the need for tumor surveillance.

Volume 99

26th European Congress of Endocrinology

Stockholm, Sweden
11 May 2024 - 14 May 2024

European Society of Endocrinology 

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