Endocrinol Metab Clin North Am. 2018 Dec;47(4):865-888. doi: 10.1016/j.ecl.2018.07.011. Epub 2018 Oct 12.


Pseudohypoparathyroidism (PHP) refers to a heterogeneous group of uncommon, yet related metabolic disorders that are characterized by impaired activation of the Gsα/cAMP/PKA signaling pathway by parathyroid hormone (PTH) and other hormones that interact with Gsa-coupled receptors. Proximal renal tubular resistance to PTH and thus hypocalcemia and hyperphosphatemia, frequently in presence of brachydactyly, ectopic ossification, early-onset obesity, or short stature are common features of PHP. Registries and large cohorts of patients are needed to conduct clinical and genetic research, to improve the still limited knowledge regarding the underlying disease mechanisms, and allow the development of novel therapies.

Keywords: Acrodysostosis; Brachydactyly; Early-onset obesity; GNAS; PTH resistance; Pseudohypoparathyroidism; Subcutaneous ossifications.

Publication types

  • Review

MeSH terms

  • Adult
  • Bone Diseases / etiology
  • Bone Diseases / prevention & control
  • Child
  • Drug Resistance
  • Humans
  • Parathyroid Hormone / therapeutic use
  • Pseudohypoparathyroidism / diagnosis
  • Pseudohypoparathyroidism / pathology
  • Pseudohypoparathyroidism / physiopathology
  • Pseudohypoparathyroidism / therapy*


  • Parathyroid Hormone