hrp0086p2-p151 | Bone & Mineral Metabolism P2 | ESPE2016

Progressive Development of PTH Resistance in Patients with Maternal GNAS Inactivating Mutations

Usardi Alessia , Mamoune Asmaa , Nattes Elodie , Rothenbuhler Anya , Linglart Agnes

Background: Pseudohypoparathyroidism (PHP) is a group of disorders characterized by end-organ resistance to the parathyroid hormone (PTH). PHP type 1A is caused by mutations in GNAS exon 1 through 13 with multihormone resistance (PTH, TSH and gonadotropins), AlbrightÂ’s hereditary osteodystrophy, and obesity. However, patients often do not present with elevated levels of PTH until after the first years of life.O...