Endocrine Abstracts

Pseudohypoparathyroidism (PHP) type I includes two major subtypes, Ia and Ib. About 70% of Ia patients, characterized by Albright hereditary osteodystrophy and multihormone resistance (PTH/TSH/GHRH/gonadotropins), carry point mutations in GNAS exons encoding Gsα. About 60% of Ib patients, with hormone resistance limited to PTH and TSH, have methylation defects within GNAS locus (sporadic or genetic-based). Recently, methylation defects were detected in pts with Ia phenoty...