Highlights & Basics
- Pseudohypoparathyroidism results from resistance to the actions of parathyroid hormone (PTH) produced by a loss of G-protein-mediated signaling.
- 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 hypocalcemia, hyperphosphatemia, 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 normalization of calcium and phosphate levels using calcium supplementation, vitamin D, and thiazide diuretics. Associated endocrinopathies, if present, are treated with hormone replacement.
Quick Reference
History & Exam
Key Factors
Other Factors
Diagnostics Tests
Treatment Options
Definition
Epidemiology
Etiology
Pathophysiology
Images
Overview of regulation of serum calcium. The double lines and dashed line indicate the defects in PTH signaling seen in PHP. The defect in the kidney response is more pronounced
The signaling cascade of parathyroid hormone
Eliciting Chvostek sign
Eliciting Trousseau sign
Child with Albright hereditary osteodystrophy showing a round face and a short nose with a flat nasal bridge
Hands of an adult with Albright hereditary osteodystrophy showing shortening of the IV metacarpal and distal phalanges, and knuckle dimples in the clenched fists
CT findings of severe basal ganglia calcification in a patient with pseudohypoparathyroidism
Subtypes of pseudohypoparathyroidism
Hand radiograph suggestive of shortened IV and V metacarpals
Citations
Mantovani G, Bastepe M, Monk D, et al. Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement. Nat Rev Endocrinol. 2018 Aug;14(8):476-500.[Abstract][Full Text]
Mantovani G, Bastepe M, Monk D, et al. Recommendations for diagnosis and treatment of pseudohypoparathyroidism and related disorders: an updated practical tool for physicians and patients. Horm Res Paediatr. 2020;93(3):182-96.[Abstract][Full Text]
American Society for Bone and Mineral Research. Primer on the metabolic bone diseases and disorders of mineral metabolism. 9th ed. 2018 [internet publication].[Full Text]
Mantovani G, Spada A. Mutations in the Gs alpha gene causing hormone resistance. Best Prac Res Clin Endocrinol Metab. 2006 Dec;20(4):501-13.[Abstract]
Bastepe M. The GNAS locus and pseudohypoparathyroidism. Adv Exp Med Bio. 2008;626:27-40. [Abstract]
Greer FR, Krebs NF; American Academy of Pediatrics Committee on Nutrition. Optimizing bone health and calcium intakes of infants, children, and adolescents. Pediatrics. 2006 Feb;117(2):578-85.[Abstract][Full Text]
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