Abstract
Pseudophypoparathyroidism (PHP) is characterized by hypocalcemia, hyperphosphatemia and elevated levels of parathyroid hormone (PTH) due to resistance to PTH. PHP type I a is caused by heterozygous inactivating mutation of the GNAS1 gene, which encodes signal transducer, Gsalpha. PHP type I a is associated with Albright's osteodystrophy (AHO). Those patients who have AHO phenotype without hormone resistance are affected by pseudopseudohypoparathyroidism.
MeSH terms
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Calcitriol / therapeutic use
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Chromogranins
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Fibrous Dysplasia, Polyostotic / genetics
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GTP-Binding Protein alpha Subunits, Gs / genetics*
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Humans
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Hydroxycholecalciferols / therapeutic use
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Mutation*
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Pseudohypoparathyroidism / diagnosis
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Pseudohypoparathyroidism / drug therapy
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Pseudohypoparathyroidism / genetics*
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Pseudopseudohypoparathyroidism / genetics
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Signal Transduction
Substances
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Chromogranins
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Hydroxycholecalciferols
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GNAS protein, human
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GTP-Binding Protein alpha Subunits, Gs
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Calcitriol
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alfacalcidol