Pseudohypoparathyroidism risk factors: Difference between revisions
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==Risk Factors== | ==Risk Factors== | ||
The most potent risk factor in the development of pseudohypoparathyroidism is a positive family history for [[GNAS1|GNAS]] mutation. For more information regarding [[GNAS1|GNAS]] mutation [[Pseudohypoparathyroidism pathophysiology#Genetics|click here]]. | The most potent risk factor in the development of pseudohypoparathyroidism is a positive family history for [[GNAS1|GNAS]] mutation. For more information regarding [[GNAS1|GNAS]] mutation [[Pseudohypoparathyroidism pathophysiology#Genetics|click here]]. | ||
{| class="wikitable" | colspan="2" rowspan="2" |Disorders | rowspan="2" |Mechanism of hypocalcemia | colspan="4" |Laboratory findings |- |Serum PTH |Serum Calcium |Serum Phosphate |Other findings |- | rowspan="2" |Acrodysostosis |Acrodysostosis type 1 |PRKAR1A germ-line mutation in the encoding gene resulting in parathyroid resistance |↑ |↓ |↑ |Multiple hormone resistance |- |Acrodysostosis type 2 |Phosphodiesterase 4D (PDE4D) gene mutation resulting in parathyroid resistance |↑ |↓ |↑ |Multiple hormone resistance |- | colspan="2" |Blomstrand chondrodysplasia |Homozygous or heterozygous mutations in both alleles encoding the type 1 parathyroid hormone receptor resulting in parathyroid resistance |↑ |↓ |↑ |↓ Urinary Phosphate, ↑Urinary cAMP |} | |||
==References== | ==References== |
Revision as of 19:46, 3 October 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mazia Fatima, MBBS [2]
Overview
The most potent risk factor in the development of pseudohypoparathyroidism is a positive family history for GNAS mutation.
Risk Factors
The most potent risk factor in the development of pseudohypoparathyroidism is a positive family history for GNAS mutation. For more information regarding GNAS mutation click here.