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Pseudohypoparathyroidism

Last reviewed: 13 Sep 2025
Last updated: 10 Dec 2024

Summary

Definition

History and exam

Key diagnostic factors

  • positive family history of PHP
  • muscle cramp
  • paresthesias
  • muscle twitches
  • positive Chvostek sign
  • intellectual disability
  • Albright hereditary osteodystrophy
  • muscle spasm
  • tetany
  • positive Trousseau sign
Full details

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
Detalhes completos

Fatores de risco

  • positive family history of PHP
Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

  • 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
Detalhes completos

Investigações a serem consideradas

  • 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
Detalhes completos

Algoritmo de tratamento

AGUDA

symptomatic hypocalcemia

CONTÍNUA

asymptomatic hypocalcemia

Colaboradores

Autores

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 has contributed to advisory boards for Takeda and Shire pharmaceuticals.

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

Раскрытие информации

RM declares that he has no competing interests.

Peer reviewer acknowledgements

BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.

Disclosures

Peer reviewer affiliations and disclosures pertain to the time of the review.

Список литературы

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Основные статьи

Mantovani G, Bastepe M, Monk D, et al. Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement. Nat Rev Endocrinol. 2018 Aug;14(8):476-500.Полный текст  Аннотация

Mantovani G, Bastepe M, Monk D, et al. Recommendations for diagnosis and treatment of pseudohypoparathyroidism and related disorders: an updated practical tool for physicians and patients. Horm Res Paediatr. 2020;93(3):182-96.Полный текст  Аннотация

American Society for Bone and Mineral Research. Primer on the metabolic bone diseases and disorders of mineral metabolism. 9th ed. 2018 [internet publication].Полный текст

Mantovani G, Spada A. Mutations in the Gs alpha gene causing hormone resistance. Best Prac Res Clin Endocrinol Metab. 2006 Dec;20(4):501-13. Аннотация

Bastepe M. The GNAS locus and pseudohypoparathyroidism. Adv Exp Med Bio. 2008;626:27-40. Аннотация

Greer FR, Krebs NF; American Academy of Pediatrics Committee on Nutrition. Optimizing bone health and calcium intakes of infants, children, and adolescents. Pediatrics. 2006 Feb;117(2):578-85.Полный текст  Аннотация

Статьи, указанные как источники

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