The discovery of variably decreased olfactory ability in Type la pseudohypoparathyroidism (PHP), a syndrome in which generalized hormone resistance is associated with deficiency of the alpha chain of the stimulatory guanine nucleotide-binding protein (Gsa) of adenylyl
نویسندگان
چکیده
Smell and Taste Center and Department of Otorhinolaryngology: Head and Neck Surgery (R.L.D., A.D.F., DA.M.), School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, Department of Medicine (M.A.L.), Division of Endocrinology and Metabolism, Johns Hopkins University, Baltimore, Maryland 21205; Department of Medicine (A.M.), College of Medicine, State University of New York Health Science Center, Syracuse, New York 13210
منابع مشابه
Genetics of pseudohypoparathyroidism: bases for proper genetic counselling.
Pseudohypoparathyroidism (PHP) is characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone (PTH). Patients with PHP-Ia often show additional hormone resistance and characteristic physical features that are collectively termed Albright's hereditary osteodystrophy (AHO). These features are also present in pseudopseudohypoparathyroidism (PPHP), but patients with...
متن کاملIdentification of a Novel Mutation in a Pseudohypoparathyroidism Family
Pseudohypoparathyroidism type Ia (PHP Ia) is defined as a series of disorders characterized by multihormone resistance in end-organs and Albright hereditary osteodystrophy (AHO) phenotype. PHP Ia is caused by heterozygous inactivating mutations in GNAS, which encodes the stimulatory G-protein alpha subunit (Gsa). A patient with typical clinical manifestations of pseudohypoparathyroidism (PHP) (...
متن کاملGenetic basis for resistance to parathyroid hormone.
Pseudohypoparathyroidism (PHP) is associated with biochemical hypoparathyroidism (i.e. hypocalcemia and hyperphosphatemia) due to parathyroid hormone (PTH) resistance rather than to PTH deficiency. Patients with PHP type 1a have a generalized form of hormone resistance plus a constellation of developmental defects termed Albright hereditary osteodystrophy (AHO). Within PHP type 1a families some...
متن کاملGNAS locus and pseudohypoparathyroidism.
Pseudohypoparathyroidism (PHP) is characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone (PTH). Patients with PHP-Ia often present with additional hormonal resistance and show characteristic physical features that are collectively termed Albright's hereditary osteodystrophy (AHO). These features are also present in pseudopseudohypoparathyroidism (PPHP), but...
متن کاملDeficient guanine nucleotide regulatory unit activity in cultured fibroblast membranes from patients with pseudohypoparathyroidism type I. a cause of impaired synthesis of 3',5'-cyclic AMP by intact and broken cells.
Deficient activity of the guanine nucleotide regulatory protein (G unit), an integral component of the membrane-bound adenylate cyclase complex, has been implicated as the biochemical lesion in many patients with pseudohypoparathyroidism (PHP) type I. In addition to renal resistance to parathyroid hormone in this disorder, there is decreased responsiveness of diverse tissues to hormones that ac...
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