Last reviewed: November 2017
Last updated: July  2017

Summary

Definition

History and exam

Key diagnostic factors

  • positive FHx
  • muscle cramp
  • paraesthesias
  • muscle twitches
  • positive Chvostek's sign
  • intellectual impairment
  • Albright's hereditary osteodystrophy
  • muscle spasm
  • tetany
  • positive Trousseau's sign

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
  • hx of cholesterol gallstones
  • features of psychosis

Risk factors

  • positive FHx

Diagnostic investigations

1st investigations to order

  • serum calcium
  • serum phosphorus
  • serum PTH
  • serum creatinine
  • serum magnesium
  • serum 25-hydroxyvitamin D
  • follicle-stimulating hormone
  • luteinising hormone
  • oestradiol
  • testosterone
  • growth hormone
  • insulin-like growth factor-1
Full details

Investigations to consider

  • x-ray hands
  • ECG
  • serum TSH
  • serum free thyroxine (T4)
  • response to exogenous human PTH (1-34)
  • DXA bone-density scan
  • CT head
  • mutation analysis of GNAS
Full details

Treatment algorithm

Contributors

Authors VIEW ALL

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.

Consultant Endocrinologist

Department of Endocrinology

Queen Elizabeth Hospital Birmingham

Birmingham

UK

Disclosures

JA declares that he has no competing interests.

Prof Neil Gittoes and Dr John Ayuk would like to gratefully acknowledge Dr Emad Naem and Dr Kent Wehmeier, previous contributors to this monograph. EN and KW declare that they have no competing interests.

Peer reviewers VIEW ALL

Institute of Endocrine Science

University of Milan

Milan

Italy

Disclosures

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

Professor of Surgery

Virginia Commonwealth University

Richmond

VA

Disclosures

RM declares that he has no competing interests.

Use of this content is subject to our disclaimer