Pseudohypoparathyroidism: Difference between revisions
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==Diagnosis== | ==Diagnosis== | ||
=== | ===Physical Examination=== | ||
* [[ | * Short stature | ||
* [[ | *[[Obesity]] | ||
* | |||
===Laboratory Findings=== | |||
* [[Hypocalcemia]] | |||
* [[Hyperphosphatemia]] | |||
* Elevated [[parathyroid hormone]] ([[hyperparathyroidism]]) | |||
==Types== | ==Types== | ||
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==See also== | ==See also== | ||
* [[Hypoparathyroidism]] | * [[Hypoparathyroidism]] | ||
{{Endocrine pathology}} | {{Endocrine pathology}} | ||
{{SIB}} | {{SIB}} | ||
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[[Category:Disease state]] | |||
[[Category:Endocrinology]] | [[Category:Endocrinology]] | ||
[[Category:Nephrology]] | [[Category:Nephrology]] | ||
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{{WikiDoc Sources}} | {{WikiDoc Sources}} | ||
Revision as of 02:59, 29 July 2011
For patient information click here
| 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
Physical Examination
- Short stature
- Obesity
Laboratory Findings
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