ea0029oc8.5 | Bone | ICEECE2012
Elli F.
, de Santis L.
, Filopanti M.
, Beck-Peccoz P.
, Spada A.
, Mantovani G.
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 GsĪ±. 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...