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Diseases

Genetic and Rare Diseases Information Center (GARD)

Pseudopseudohypoparathyroidism


Other Names for this Disease
  • PPHP
  • Albright hereditary osteodystrophy without multiple hormone resistance
  • Pseudopseudo-Hypoparathyroidism
  • Pseudo-Pseudohypoparathyroidism
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Tests & Diagnosis

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How is pseudopseudohypoparathyroidism (PPHP) diagnosed?

Diagnosis of PPHP is based on the presence of features of Albright hereditary osteodystrophy (AHO) without parathyroid hormone (PTH) resistance.  If there are features of AHO and resistance to PTH a different form of pseudohypoparathyroidism (PHP) will be considered. Other forms of PHP are usually ruled out by blood tests including serum calcium, phosphate and PTH. X-rays will show shortening of the fourth metacarpal (long bone of the hand) and advanced bone age. All metacarpals and metatarsals (long bones of the foot) may be affected. The diagnosis is confirmed by genetic testing identifying a mutation or change in the GNAS gene. [1][2]
Last updated: 7/11/2016

References
  1. Mantovani G. Pseudopseudohypoparathyroidism. Orphanet. October 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79445.
  2. Abraham MR. Pseudohypoparathryroidism Workup. Medscape Reference. December 11 2015; http://emedicine.medscape.com/article/124836-workup.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • PPHP
  • Albright hereditary osteodystrophy without multiple hormone resistance
  • Pseudopseudo-Hypoparathyroidism
  • Pseudo-Pseudohypoparathyroidism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.