Pseudohypoparathyroidism history and symptoms
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mazia Fatima, MBBS [2]
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:
- 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.
History and Symptoms
- A positive family history of pseudohypoparathyroidism is suggestive of the autosomal dominant inheritance.
- The most common symptoms of pseudohypoparathyroidism type 1a include short stature,mental retardation associated with Albright hereditary Osteodystrophy phenotype.
- Common symptoms due to associated hypocalcemia include
- Paresthesias (peri-oral, extremities)
- Muscle twitching
- Carpopedal spasm
- Seizures
- Prolonged QT interval
- Hypotension
- Arrhythmia