Searchable abstracts of presentations at key conferences in endocrinology

ea0070aep68 | Adrenal and Cardiovascular Endocrinology | ECE2020

Does adrenal vein sampling really improve the final approach for treating prymary aldosteronism? a retrospective study.

León Mengíbar Josep , Capel Flores Ismael , Subias Andujar David , Perendreu Sans Juan , Almirall Daly Jaume , Berlanga Escalera Eugenio , Rigla Mercedes

Introduction: Primary aldosteronism (PA) causes 15–25% of cases of drug-resistant hypertension (RBP). Adrenal vein sampling (AVS) is considered the gold standard for diagnosis of aldosterone aberrant secretion origin. The distinction between unilateral and bilateral disease dictates the targeted therapeutic approach, with surgery for aldosterone producing adenomas and medical therapy for patients with bilateral hyperplasia. As AVS is an invasive, not well standardized pr...

ea0099ep8 | Calcium and Bone | ECE2024

Novel germline variant of CDC73 identified during screening for familial primary hyperparathyroidism

Muntean Andreea , Mazarico Altisent Isabel , Capel Flores Ismael , Casamitjana Espuna Laia , Hernandez Lazaro Alba , Barcons Vilaplana Santiago , Guirao Garriga Xavier , Baena Diez Neus , Romero Gregori Ana , Bella Burgos Berta , Arsentales Montalva Valeria , Jover Gornall Judith , Rigla Cros Mercedes

Background: Hyperparathyroidism jaw-tumor syndrome (HPT-JT) is a rare and underdiagnosed cause of familial primary hyperparathyroidism (incidence <1/1000000). It is caused by a pathogenic variant in the CDC73 (or HRPT2) gene that encodes parafibromin. Patients with HPT-JT have a 15–20% risk of developing parathyroid carcinoma. Other related conditions are jaw tumors in 30% of cases, kidney abnormalities in 15% of cases, and uterine tumors in 50% of c...