Management of adrenal masses in patients with Beckwith–Wiedemann syndrome
This study seeks to outline recommendations for managing incidental adrenal masses in children with Beckwith-Wiedemann syndrome (BWS). Adrenal findings from children followed at the Children’s Hospital of Philadelphia were described.
Adrenal findings of patients in the institutional database were reviewed. A literature review and institutional experience were used to create the guidelines. The COG approach to subdividing age and size classification was used.
Most adrenal masses were detected incidentally on screening ultrasounds done to detect Wilms tumours or hepatoblastomas. 47 patients had adrenal masses - 3 neuroblastoma, 5 pheochromocytoma, 1 adrenocorticocarcinoma. The proposed guidelines risk-stratify patients based on age and clinical features. Patients 6 months, cystic masses can be observed for size increase by ultrasound every 3 months. The evaluation of solid masses depends on MIBG and urine HVA/VMA results and hormone levels (random cortisol, ACTH, 17(OH) progesterone, DHEAS, androstenedione, testosterone).
The details of the literature review were not described so it is unclear if it was performed in a systematic way. These guidelines, though comprehensive, have not been validated prospectively. Many of the patients were not confirrmed to have Beckwith Wiedemann Syndrome (hemihyperplasia by itself is not sufficient for diagnosis) and it is possible that there is a bias towards reporting more aggressive tumours such as neuroblastoma.