Searchable abstracts of presentations at key conferences in endocrinology

ea0032oc2.5 | Bone & Calcium | ECE2013

Genetic analysis of CDKN1B gene in familial primary hyperparathyroidism

Pardi Elena , Borsari Simona , Saponaro Federica , Banti Chiara , Pellegata Natalia , Lee Misu , Vignali Edda , Meola 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).MEN 1 is an autosomal dominant disorder characterized by tumours in multiple endocrine glands, most commonly parathyroid, enteropancreatic and anterior pitui...

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...