Endocrine Abstracts

Background: Hypercalcaemia is a well-recognised feature amongst children with Williams-Beuren syndrome with a reported incidence between 0-43%1. In most cases this is mild however in some, reportedly 6.1% (Sindhar et al.1) it is severe enough for it to be actionable and cause nephrocalcinosis. We present 2 cases of severe hypercalcaemia requiring treatment with bisphosphonates. Case 1: A 16 month old male admitted following...

Introduction: We report the complexities in the management of two patients with functioning adrenocortical tumours (ACTs), presenting with features of androgen and cortisol excess, secondary to TP53 variants. Case report: Patient 1 presented with androgen excess (P1, TVs 2mls, penis 10 cm) aged 18 months. He was a known carrier of a maternally inherited TP53 variant. Adrenal androgens were elevated, with a DHEAS level of 86 umol/l (0.0-...