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 caused by mutations in the GNAS gene. PPHP as well as pseudohypoparathyroidism (PHP) shows Albright hereditary osteodystrophy (AHO) such as mental retardation, round face, short stature, central obesity, short fingers and toes. Here we report a patient with PPHP and type 2 diabetes who had a novel mutation in the GNAS gene and showed atypical heterotopic ossification, ossification of entheses, and also thin bones of extremities, in addition to characteristic clinical features for AHO.




J Endocrinol Metab. 2013;3(6):150-152
doi: http://dx.doi.org/10.4021/jem198w