Searchable abstracts of presentations at key conferences in endocrinology

ea0005p114 | Endocrine Tumours and Neoplasia | BES2003

Familial isolated primary hyperparathyroidism due to germline multiple endocrine neoplasia Type 1 (MEN1) mutations

Turner J , Pannett A , Kennedy A , Forbes S , Cavaco B , Bassett J , Cianferotti L , Harding B , Shine B , Flinter F , Maidment C , Trembath R , Thakker R

Primary hyperparathyroidism (HPT) is most frequently encountered as a non-familial disorder, but 10% of patients with primary HPT will have a hereditary form, which may occur as an isolated endocrinopathy or as part of a complex tumour syndrome such as multiple endocrine neoplasia type 1 (MEN 1) or type 2 (MEN 2), or the hereditary hyperparathyroidism-jaw tumour syndrome (HPT-JT). Familial isolated hyperparathyroidism (FIHP) is an autosomal dominant disorder characterised by u...