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.

Overview