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Background:  Pseudohypoparathyroidism (PHP) is characterized by hypocalcemia and hyperphosphatemia in association with an increased secretion of parathyroid hormone (PTH) due to decreased target tissue responsiveness to PTH. Patients with PHP type Ia are not only resistant to PTH, but also to other hormones that bind to receptors coupled to stimulatory G protein (Gsα). PHP Ia and Albright hereditary osteodystrophy (AHO) are caused by a reduced activity of the Gsα protein. Heterozygous inactivating Gs alpha ( GNAS ) gene mutations have been identified in these patients.

A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones