Pseudohypoparathyroidism diagnostic criteria: Difference between revisions
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==Overview== | ==Overview== | ||
The diagnosis of pseudohypoparathyroidism | The diagnosis of pseudohypoparathyroidism type 1a patients includes clinical features of [[Albright's hereditary osteodystrophy]], [[parathyroid]] hormone resistance evidenced by [[hypocalcemia]], [[hyperphosphatemia]], elevated serum concentration of [[parathyroid]] hormone, diminished urinary [[cAMP]] response after administration of the biosynthetic N-terminal fragment of [[parathyroid]] hormone. | ||
==Diagnostic Criteria== | ==Diagnostic Criteria== | ||
The diagnosis of pseudohypoparathyroidism | The diagnosis of pseudohypoparathyroidism type 1a patients includes: <ref name="pmid27995443">{{cite journal |vauthors=Tafaj O, Jüppner H |title=Pseudohypoparathyroidism: one gene, several syndromes |journal=J. Endocrinol. Invest. |volume=40 |issue=4 |pages=347–356 |year=2017 |pmid=27995443 |doi=10.1007/s40618-016-0588-4 |url=}}</ref> | ||
*Clinical features of [[Albright's hereditary osteodystrophy]] | *Clinical features of [[Albright's hereditary osteodystrophy]] | ||
*[[Parathyroid]] hormone resistance evidenced by | *[[Parathyroid]] hormone resistance evidenced by | ||
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**[[Hyperphosphatemia]] | **[[Hyperphosphatemia]] | ||
**Elevated serum concentration of [[parathyroid]] hormone | **Elevated serum concentration of [[parathyroid]] hormone | ||
**Diminished urinary [[cAMP]] response after administration of the biosynthetic N-terminal fragment of [[parathyroid]] hormone | **Diminished urinary [[cAMP]] response after administration of the biosynthetic N-terminal fragment of [[parathyroid]] hormone | ||
*Genetic diagnosis of [[GNAS1|GNAS]] mutation is a most definitive method of diagnosis of pseudohypoparathyroidism | |||
==References== | ==References== | ||
Latest revision as of 20:17, 17 October 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
The diagnosis of pseudohypoparathyroidism type 1a patients includes clinical features of Albright's hereditary osteodystrophy, parathyroid hormone resistance evidenced by hypocalcemia, hyperphosphatemia, elevated serum concentration of parathyroid hormone, diminished urinary cAMP response after administration of the biosynthetic N-terminal fragment of parathyroid hormone.
Diagnostic Criteria
The diagnosis of pseudohypoparathyroidism type 1a patients includes: [1]
- Clinical features of Albright's hereditary osteodystrophy
- Parathyroid hormone resistance evidenced by
- Hypocalcemia
- Hyperphosphatemia
- Elevated serum concentration of parathyroid hormone
- Diminished urinary cAMP response after administration of the biosynthetic N-terminal fragment of parathyroid hormone
- Genetic diagnosis of GNAS mutation is a most definitive method of diagnosis of pseudohypoparathyroidism
References
- ↑ Tafaj O, Jüppner H (2017). "Pseudohypoparathyroidism: one gene, several syndromes". J. Endocrinol. Invest. 40 (4): 347–356. doi:10.1007/s40618-016-0588-4. PMID 27995443.