- Results from resistance to the actions of PTH produced by a loss of G-protein-mediated signalling.
- Different types are distinguished by the presence or absence of a characteristic skeletal phenotype, the responsiveness to PTH, the underlying mutations, and the inheritance pattern.
- Manifests clinically with hypocalcaemia, hyperphosphataemia, and elevated PTH levels.
- Some patients have associated endocrinopathies. Hypothyroidism is the most common, but hypogonadism is also seen.
- The mainstay of treatment is the normalisation of calcium and phosphate levels using calcium supplementation, vitamin D, and thiazide diuretics. Associated endocrinopathies, if present, are treated with hormone replacement.
- The underlying signalling defects are incurable. Some patients adapt to PTH resistance and have resolution of hypocalcaemia, but others require lifelong calcium supplementation.
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Last updated: Jan 28, 2013