Endocrine Abstracts

Generalized lipodystrophies are extremely rare diseases. Despite remarkable progress in identifying genes responsible for the most common forms of genetic lipodystrophies, the molecular basis of disease in some patients with distinctive phenotypes remains unclear. We herein describe the case of a male patient born from non-consanguineous parent affected by a syndrome characterized by generalized lipodystrophy, psycho-somatic growth retardation, cleft palate, macroglossia, righ...

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...