Pseudo-hipoparatireoidismo
Summary
Definition
History and exam
Key diagnostic factors
- história familiar positivo de pseudo-hipoparatireoidismo
- cãibra muscular
- parestesias
- contrações musculares
- sinal de Chvostek positivo
- deficiência intelectual
- Osteodistrofia hereditária de Albright
- espasmos musculares
- tetania
- sinal de Trousseau positivo
Other diagnostic factors
- letargia
- ansiedade
- convulsões
- discinesias paroxísticas
- unhas quebradiças
- cabelos ressecados
- calcificação subcutânea
- catarata
- características do hipotireoidismo
- características de outras resistências hormonais
- malformação de Chiari tipo 1
- história de cálculos biliares de colesterol
- características de psicose
Risk factors
- história familiar positivo de pseudo-hipoparatireoidismo (PHP)
Diagnostic tests
1st tests to order
- cálcio sérico
- fósforo sérico
- paratormônio (PTH) sérico
- creatinina sérica
- magnésio sérico
- 25-hidroxivitamina D sérica
- hormônio folículo-estimulante
- hormônio luteinizante
- estradiol
- testosterona
- hormônio do crescimento
- fator de crescimento semelhante à insulina-1
Tests to consider
- radiografia das mãos
- eletrocardiograma (ECG)
- hormônio estimulante da tireoide (TSH) sérico
- tiroxina livre sérica (T4)
- resposta ao paratormônio humano exógeno (1-34)
- exame de densitometria óssea (DEXA)
- tomografia computadorizada (TC) do crânio
- análise da mutação do GNAS
Treatment algorithm
hipocalcemia sintomática
hipocalcemia assintomática
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
Divulgaciones
JA declares that he has no competing interests.
Agradecimientos
Professor Neil Gittoes and Dr John Ayuk would like to gratefully acknowledge Dr Emad Naem and Dr Kent Wehmeier, previous contributors to this topic.
Divulgaciones
EN and KW declare that they have no competing interests.
Revisores por pares
Giovanna Mantovani, MD
Institute of Endocrine Science
University of Milan
Milan
Italy
Divulgaciones
GM is an author of a number of references cited in this topic.
Ronald Merrell, MD
Professor of Surgery
Virginia Commonwealth University
Richmond
VA
Divulgaciones
RM declares that he has no competing interests.
Agradecimiento de los revisores por pares
Los temas de BMJ Best Practice se actualizan de forma continua de acuerdo con los desarrollos en la evidencia y en las guías. Los revisores por pares listados aquí han revisado el contenido al menos una vez durante la historia del tema.
Divulgaciones
Las afiliaciones y divulgaciones de los revisores por pares se refieren al momento de la revisión.
Referencias
Artículos principales
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.Texto completo Resumen
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.Texto completo Resumen
American Society for Bone and Mineral Research. Primer on the metabolic bone diseases and disorders of mineral metabolism. 9th ed. 2018 [internet publication].Texto completo
Artículos de referencia
Una lista completa de las fuentes a las que se hace referencia en este tema está disponible para los usuarios con acceso a todo BMJ Best Practice.
Diferenciales
- Pseudopseudo-hipoparatireoidismo
- Hipoparatireoidismo primário
- Hiperparatireoidismo secundário
Más DiferencialesGuidelines
- Recommendations for diagnosis and treatment of pseudohypoparathyroidism and related disorders: an updated practical tool for physicians and patients
- Primer on the metabolic bone diseases and disorders of mineral metabolism
Más Guías de práctica clínica
Log in or subscribe to access all of BMJ Best Practice
Use of this content is subject to our disclaimer