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Pseudohypoparathyroidism type 1a information

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Location: http://www.diseasesdatabase.com/ddb10835.htm

Description: 3 synonyms or equivalents were found. Pseudohypoparathyroidism type 1a aka/or Seabright Bantam syndrome aka/or Albright's hereditary osteodystrophy Pseudohypoparathyroidism type 1a: Definition(s) via UMLS..... Pseudohypoparathyroidism: "A hereditary condition clinically resembling HYPOPARATHYROIDISM, but caused by failure of response to rather than deficiency of parathyroid hormones. It is characterized by hypocalcemia and hyperphosphatemia, and is commonly associated with short stature, obesity, short metacarpals, and ectopic calcification. (Dorland, 27th ed)" Source: Medical Subject Headings, 2007_2006_08_08 Pseudohypoparathyroidism: "hereditary condition clinically resembling hypoparathyroidism, but caused by failure of response to rather than deficiency of parathyroid hormones; characterized by hypocalcemia and hyperphosphatemia, and commonly associated with short stature, obesity, short metacarpals, and ectopic calcification." Source: CRISP Thesaurus, 2006 Pseudohypoparathyroidism: "Originally reported as a hypocalcemic syndrome similar to hypoparathyroidism, but with renal and skeletal resistance to parathyroid hormone (PTH) and designated as "pseudohypoparathyroidism." Albright later defined a normocalcemic variant which he termed "pseudopseudohypoparathyroidism." Two separate forms of pseudohypoparathyroidism are recognized. Type I in which there is no increase in the urinary excretion of cyclic adenosine monophosphate (cAMP) and phosphate in response to parathyroid hormone (PTH). Type II in which there is a response to PTH, but without phosphate diuresis. The erythrocytes of some patients with type I contain a defective receptor-cyclase coupling protein (stimulatory guanine nucleoside-binding protein, or GS) which is responsible for coupling the cellular receptor that binds parathyroid hormone (PTH) and is involved with the formation and release of cyclic adenosine monophosphate (cAMP). This variant has been designated as "pseudohypoparathyroidism type Ia." The syndrome is associated with mental deficiency, dystrophic bone lesions, short stature, and other defects." Source: Online Congenital Multiple Anomaly/Mental Retardation Syndromes, 1999 may cause or feature Miscellaneous syndromes Osteodystrophy Symptoms and Signs Anosmia Brachydactyly Corneal opacity Facies abnormality Infertility Obesity Rash Short stature Biochemical abnormalities Hyperphosphataemia Hypocalcaemia Hypogonadic hypogonadism X-ray abnormalities Ectopic calcification Endocrine conditions Hypothyroidism Psychiatric conditions Learning disability

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Added: Sat Apr 14 2007