hrp0095p1-232 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Beyond Genetics: Three Sisters with Pseudoypoparathyroidism 1A

Sippelli Fabio , Corica Domenico , Ferraloro Chiara , Romeo Mery , De Sanctis Luisa , Aversa Tommaso , Briuglia Silvana , Wasniewska Malgorzata

Pseudohypoparathyroidism (PHP) is an hereditary disorder characterized by resistance to parathyroid hormone (PTH) and in varying degrees to TSH, GHRH and FSH/LH, and caused by loss-of-function mutations in the GNAS gene, encoding the membrane protein Gs-alpha. Pathognomonic of these patients is a dysmorphic phenotype, called Albright's Osteodystrophy, which includes short stature, obesity, round face, mental delay, subcutaneous ossifications and brachydactyly. The most fr...