Pseudopseudohypoparathyroidism With a Novel Mutation in the GNAS Gene Showing Thin Bones of Extremities and Ossification of Entheses

Abstract

Pseudopseudohypoparathyroidism (PPHP) is an extremely rare disorder \t\t\tcaused by mutations in the GNAS gene. PPHP as well as pseudohypoparathyroidism (PHP) \t\t\tshows Albright hereditary osteodystrophy (AHO) such as mental \t\t\tretardation, round face, short stature, central obesity, short \t\t\tfingers and toes. Here we report a patient with PPHP and type 2 \t\t\tdiabetes who had a novel mutation in the GNAS gene and showed atypical heterotopic ossification, \t\t\tossification of entheses, and also thin bones of extremities, in \t\t\taddition to characteristic clinical features for AHO. J Endocrinol Metab. 2013;3(6):150-152 doi: http://dx.doi.org/10.4021/jem198w