Searchable abstracts of presentations at key conferences in endocrinology

ea0032p121 | Calcium and Vitamin D metabolism | ECE2013

Genetic analysis of AIP genes in familial primary hyperparathyroidism

Saponaro Federica , Borsari Simona , Pardi Elena , Banti Chiara , Vignali Edda , Meola Antonella , Picone Antonella , Mastinu Marco , Mariotti Stefano , Marcocci Claudio , Cetani Filomena

Primary hyperparathyroidism (PHPT) is usually a sporadic disorder, but in <10% of cases occurs as part of hereditary syndromes, including multiple endocrine neoplasia types 1 and 2A (MEN1 and MEN2A), hyperparathyroidism–jaw tumor syndrome (HPT–JT) and familial isolated hyperparathyroidism (FIHP).MEN1 is an autosomal dominant disorder characterized by tumours in multiple endocrine glands, most commonly parathyroid, enteropancreatic and anter...

ea0037ep282 | Calcium and Vitamin D metabolism | ECE2015

A prospective study on juvenile primary hyperprathyroidism population

Saponaro Federica , Cacciatore Federica , Vignali Edda , Picone Antonella , Banti Chiara , Meola Antonella , Borsari Simona , Pardi Elena , Marcocci Claudio , Cetani Filomena

Primary hyperparathyroidism (PHPT) is a common disorder in adults but is uncommon in young people and features of juvenile PHPT (J-PHPT) are debated in literature. The aim of the study was to evaluate the characteristics of PHPT in juvenile sporadic (S) and familial (F) patients. It’s a monocentric prospective study at a referral centre in 154 patients with ≤40 years. Patients were evaluated at diagnosis and at the last follow-up visit (median follow-up 2 years), co...