Management of pseudohypoparathyroidism

Curr Opin Pediatr. 2019 Aug;31(4):537-549. doi: 10.1097/MOP.0000000000000783.


Purpose of review: This review is timely given the 2018 publication of the first international Consensus Statement for the diagnosis and management of pseudohypoparathyroidism (PHP) and related disorders. The purpose of this review is to provide the knowledge needed to recognize and manage PHP1A, pseudopseudohypoparathyroidism (PPHP) and PHP1B - the most common of the subtypes - with an overview of the entire spectrum and to provide a concise summary of management for clinical use. This review will draw from recent literature as well as personal experience in evaluating hundreds of children and adults with PHP.

Recent findings: Progress is continually being made in understanding the mechanisms underlying the PHP spectrum. Every year, through clinical and laboratory studies, the phenotypes are elucidated in more detail, as are clinical issues such as short stature, brachydactyly, subcutaneous ossifications, cognitive/behavioural impairments, obesity and metabolic disturbances. Headed by a European PHP consortium, experts worldwide published the first international Consensus that provides detailed guidance in a systematic manner and will lead to exponential progress in understanding and managing these disorders.

Summary: As more knowledge is gained from clinical and laboratory investigations, the mechanisms underlying the abnormalities associated with PHP are being uncovered as are improvements in management.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Adult
  • Animals
  • Child
  • Child, Preschool
  • Chromogranins
  • Female
  • GTP-Binding Protein alpha Subunits, Gs / blood
  • GTP-Binding Protein alpha Subunits, Gs / genetics*
  • Growth Hormone / deficiency
  • Humans
  • Infant
  • Male
  • Mice
  • Obesity / complications*
  • Pseudohypoparathyroidism* / blood
  • Pseudohypoparathyroidism* / diagnosis
  • Pseudohypoparathyroidism* / genetics
  • Pseudopseudohypoparathyroidism / diagnosis
  • Pseudopseudohypoparathyroidism / genetics


  • Chromogranins
  • Growth Hormone
  • GNAS protein, human
  • GTP-Binding Protein alpha Subunits, Gs