73. Pseudohypoparathyroidism

  1. Clifford J. Rosen MD
  1. Harald Jüppner and
  2. Murat Bastepe

Published Online: 19 JUL 2013

DOI: 10.1002/9781118453926.ch73

Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, Eighth Edition

Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, Eighth Edition

How to Cite

Jüppner, H. and Bastepe, M. (2013) Pseudohypoparathyroidism, in Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, Eighth Edition (ed C. J. Rosen), John Wiley & Sons, Inc., Ames, USA. doi: 10.1002/9781118453926.ch73

Publication History

  1. Published Online: 19 JUL 2013

ISBN Information

Print ISBN: 9781118453889

Online ISBN: 9781118453926

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Keywords:

  • progressive osseous heteroplasia (POH);
  • pseudopseudohypoparathyroidism (PPHP);
  • stimulatory G protein (Gsα)

Summary

This chapter focuses on the clinical and molecular definition of PHP type I (PHP-I) and the subtypes thereof. Maternally inherited mutations involving the GNAS exons that encode stimulatory G protein (Gsa) are responsible for PHP-Ia, while these mutations, when inherited paternally, lead to pseudopseudohypoparathyroidism (PPHP) or progressive osseous heteroplasia (POH). AD-PHP-Ib is caused by maternally inherited microdeletions within or upstream of GNAS, and these are associated with loss of some or all maternal GNAS methylation imprints; thus, impaired Gsα expression in those tissues where paternal Gsα expression is silenced. Indistinguishable GNAS methylation changes are also observed in PHP-Ib due to paternal uniparental isodisomy for chromosome 20q (patUPD20q), while the cause of sporadic PHP-Ib and the associated GNAS methylation changes remains to be determined.