hrp0094p2-74 | Bone, growth plate and mineral metabolism | ESPE2021

Primary hyperparathyroidism due to a deletion of the CDC73 gene.

de Beldjenna Liliana Mejia , Garcia Castano Alejandro , Gomez Conde Sara , Castano Luis ,

Introduction: Primary hyperparathyroidism (PHPT), often caused by a single adenoma (80%–85%) or hyperplasia or adenomas involving multiple glands, is the major cause of hypercalcemia. PHPT is common and occurs in individuals of all ages, but its prevalence is lower in young adults. Parathyroid tumors and PHPT can be caused by germline (hereditary PHPT) or somatic mutations of tumor suppressor genes (e.g., multiple endocrine neoplasia type 1 and CDC73) and...