Pseudohypoparathyroidism

Last reviewed: 25 Apr 2022
Last updated: 01 Feb 2019

Summary

Definition

History and exam

Key diagnostic factors

  • positive family history of PHP
  • muscle cramp
  • paresthesias
  • muscle twitches
  • positive Chvostek sign
  • intellectual impairment
  • Albright hereditary osteodystrophy
  • muscle spasm
  • tetany
  • positive Trousseau sign
More key diagnostic factors

Other diagnostic factors

  • lethargy
  • anxiety
  • seizures
  • paroxysmal dyskinesias
  • brittle nails
  • dry hair
  • subcutaneous calcification
  • cataracts
  • features of hypothyroidism
  • features of other hormone resistance
  • Chiari type 1 anomaly
  • history of cholesterol gallstones
  • features of psychosis
Other diagnostic factors

Risk factors

  • positive family history of PHP
More risk factors

Diagnostic investigations

1st investigations to order

  • serum calcium
  • serum phosphorus
  • serum PTH
  • serum creatinine
  • serum magnesium
  • serum 25-hydroxyvitamin D
  • follicle-stimulating hormone
  • luteinizing hormone
  • estradiol
  • testosterone
  • growth hormone
  • insulin-like growth factor-1
More 1st investigations to order

Investigations to consider

  • x-ray hands
  • ECG
  • serum thyroid-stimulating hormone (TSH)
  • serum free thyroxine (T4)
  • response to exogenous human PTH(1-34)
  • dual-energy x-ray absorptiometry (DXA) bone-density scan
  • CT head
  • mutation analysis of GNAS
More investigations to consider

Treatment algorithm

ACUTE

symptomatic hypocalcemia

ONGOING

asymptomatic hypocalcemia

Contributors

Authors

Neil Gittoes, MD, FRCP

Consultant Endocrinologist and Honorary Professor of Endocrinology

Department of Endocrinology

Centre for Endocrinology, Diabetes and Metabolism

Queen Elizabeth Hospital Birmingham

Birmingham

UK

Disclosures

NG declares that he has no competing interests.

John Ayuk, MD, FRCP

Consultant Endocrinologist

Department of Endocrinology

Queen Elizabeth Hospital Birmingham

Birmingham

UK

Disclosures

JA declares that he has no competing interests.

Acknowledgements

Professor Neil Gittoes and Dr John Ayuk would like to gratefully acknowledge Dr Emad Naem and Dr Kent Wehmeier, previous contributors to this topic.

Disclosures

EN and KW declare that they have no competing interests.

Peer reviewers

Giovanna Mantovani, MD

Institute of Endocrine Science

University of Milan

Milan

Italy

Disclosures

GM is an author of a number of references cited in this topic.

Ronald Merrell, MD

Professor of Surgery

Virginia Commonwealth University

Richmond

VA

Disclosures

RM declares that he has no competing interests.

  • Pseudohypoparathyroidism images
  • Differentials

    • Pseudopseudohypoparathyroidism
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    • Secondary hyperparathyroidism
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  • Guidelines

    • Primer on the metabolic bone diseases and disorders of mineral metabolism
    • Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement
    More Guidelines
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