Searchable abstracts of presentations at key conferences in endocrinology

ea0081p294 | Calcium and Bone | ECE2022

Genetic testing in patients with primary hyperparathyroidism before surgery

Matejkova Behanova Magdalena , Vcelak Josef , Moravcova Jitka , Personova Katerřina , Vaculova Marketa , Chmelova Renata , Junkova Kristyna , Ježkova Jana , Fialova Martina , Libansky Petr

Introduction: Familial and hereditary forms of primary hyperparathyroidism (PHPT) represent a small minority of all patients with PHPT (5 – 10%). The surgical approach is different in such cases than in sporadic PHPT. Hereditary PHPT may be syndromic (multiple endocrine neoplasia: MEN – type 1, 2A or 4 and others) or nonsyndromic (familial isolated PHPT). The aim of the study was to identify and describe hereditary and familial forms of PHPT in patients referred to p...