Endocrine Abstracts

Familial Isolated Hyperparathyroidism (FIHP) is a hereditary disorder characterized by primary hyperparathyroidism (PHPT) with no evidence of other endocrine disorders. Germline MEN1, CDC73 and CASR mutations have been identified, but the majority of FIHP has still unrecognized causes. The aim of this study was to identify, by whole-exome sequencing, novel gene alterations in a large FIHP kindred. The family’s proband, her sister, brother and ni...