Searchable abstracts of presentations at key conferences in endocrinology

ea0099ep348 | Calcium and Bone | ECE2024

Pediatric case of autosomal dominant hypocalcaemia type 2 (ADH2) due to GNA11 gene mutation

Akad Nada , Christina Ungureanu Maria , Tofan Ana , Vasiliu Ioana , Tarcau Otilia-Andreea

Introduction: Autosomal Dominant Hypocalcemia (ADH) presents with low calcium and high phosphorus levels due to hypoparathyroidism. It is categorized into type 1, resulting from gain-of-function mutations in the calcium-sensing receptor (CASR), and type 2, caused by activating mutations in GNA11, a key mediator in CASR signaling. Our contribution involves reporting a rare case of pediatric ADH 2.Case presentation: We present the case of a 9-year-old boy ...

ea0099ep1008 | Calcium and Bone | ECE2024

Primary hyperparathyroidism in familial multiple endocrine neoplasia type 1- Case Report

Tofan Ana , Leustean Letitia , Preda Cristina , Neculaes Gina , Akad Nada , Maria-Christina Ungureanu

Recurrent hypercalcemia after successful parathyroidectomy has been reported to be higher than previously thought. Most cases are transient and often associated with other factors, with only a minority requiring treatment. Multidisciplinary diagnosis is necessary to prevent persistence and recurrence. A 55-year-old female patient with a history of surgical removal of a right parathyroid adenoma four years prior, lost from follow-up, was referred to our clinic for persistent as...