Pseudohypoparathyroidism diagnostic criteria
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.
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