Pseudohypoparathyroidism: Difference between revisions
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==Overview== | |||
'''Pseudohypoparathyroidism''' is a condition caused by resistance to the [[parathyroid hormone]]. Patients have a low serum [[calcium]] and high [[phosphate]], but the parathyroid hormone level is appropriately high. | '''Pseudohypoparathyroidism''' is a condition caused by resistance to the [[parathyroid hormone]]. Patients have a low serum [[calcium]] and high [[phosphate]], but the parathyroid hormone level is appropriately high. | ||
* Type 1a pseudohypoparathyroidism has a characteristic phenotypic appearance ([[Albright's hereditary osteodystrophy]]), including short fourth and fifth [[metacarpals]] and a rounded [[facies]]. | * Type 1a pseudohypoparathyroidism has a characteristic phenotypic appearance ([[Albright's hereditary osteodystrophy]]), including short fourth and fifth [[metacarpals]] and a rounded [[facies]]. | ||
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The term [[pseudopseudohypoparathyroidism]] is used to describe a condition where the individual has the phenotypic appearance of pseudohypoparathyroidism type 1a, but is biochemically normal. | The term [[pseudopseudohypoparathyroidism]] is used to describe a condition where the individual has the phenotypic appearance of pseudohypoparathyroidism type 1a, but is biochemically normal. | ||
==Symptoms== | ==Diagnosis== | ||
===Symptoms=== | |||
* [[hypocalcemia]] | * [[hypocalcemia]] | ||
* [[hyperphosphatemia]] | * [[hyperphosphatemia]] | ||
Revision as of 02:54, 29 July 2011
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| Pseudohypoparathyroidism |
Template:Search infobox Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Phone:617-632-7753
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Overview
Pseudohypoparathyroidism is a condition caused by resistance to the parathyroid hormone. Patients have a low serum calcium and high phosphate, but the parathyroid hormone level is appropriately high.
- Type 1a pseudohypoparathyroidism has a characteristic phenotypic appearance (Albright's hereditary osteodystrophy), including short fourth and fifth metacarpals and a rounded facies.
- Type 1b pseudohypoparathyroidism lacks the physical appearance of type 1a, but is biochemically similar.
The term pseudopseudohypoparathyroidism is used to describe a condition where the individual has the phenotypic appearance of pseudohypoparathyroidism type 1a, but is biochemically normal.
Diagnosis
Symptoms
- hypocalcemia
- hyperphosphatemia
- elevated parathyroid hormone (hyperparathyroidism)
- short stature
- obesity
Types
- Online Mendelian Inheritance in Man (OMIM) 103580 - Type 1A (closely associated with Albright's hereditary osteodystrophy)
- Online Mendelian Inheritance in Man (OMIM) 603233 - Type 1B
- Online Mendelian Inheritance in Man (OMIM) 203330 - Type 2
See also
Acknowledgements
The content on this page was first contributed by: C. Michael Gibson, M.S., M.D.
List of contributors: