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[Gene abnormality associated with resistance to parathyroid hormone]
1Department of Environmental Medicine, Osaka Medical Center and Institute for Maternal and Child Health.
Clinical Calcium
|March 19, 2005
Abstract
None:
Pseudohypoparathyroidism (PHP) is characterized by PTH-resistant hypocalcemia and hyperphosphatemia. Patients with PHP-Ia exhibit Albright osteodystrophy and resistance to TSH and other hormones in addition to PTH. PHP-Ia is caused by heterozygous inactivating mutations in the GNAS1 gene which encodes Gsalpha protein. In PHP-Ib, resistance to PTH is confined to the renal tubules. Recent reports describe a paternally imprinted disorder in a region including the GNAS1 gene as the cause of PHP-Ib.