Endocrine Abstracts

Backround: Pseudohypoparathyroidism (PHP) type 1A is a rare disorder characterized by end-organ resistance to the action of parathyroid hormone (PTH), resistance to other hormones that activate Gs-coupled receptors, such as TSH and gonadotropins and phenotypic features of Albright hereditary osteodystrophy (AHO), including short stature, obesity, round face, brachydactyly and subcutaneous ossifications. PHP type 1A is caused by heterozygous loss-of-function mutations in the ge...