Endocrine Abstracts

Pseudohypoparathyroidism (PHP) defines a group of disorders characterized by resistance to PTH. They are classified in type Ia, Ib, Ic and type II according to their clinical and biological characteristics. PHP-Ia is caused by heterozygous mutations in the GNAS1 gene, encoding the alpha subunit of protein Gs. The aim of our study was to describe the diagnostic role of GNAS1 mutation screening in a large group of patients, and to define the intrafamilial transmiss...