Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Pseudohypoparathyroidism diagnostic criteria
Introduction
Overview
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
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
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.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: