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Hiperplasia adrenal congênita

Última revisão: 22 Jul 2025
Última atualização: 11 Dec 2024

Resumo

Definição

História e exame físico

Principais fatores diagnósticos

  • perda de peso
  • retardo do crescimento pôndero-estatural
  • vômitos
  • hipotensão
  • genitália atípica
  • hiperpigmentação
Detalhes completos

Outros fatores diagnósticos

  • baixa estatura
  • puberdade precoce
  • menstruação irregular
  • infertilidade
  • calvície de padrão masculino (mulheres)
  • ovários policísticos
  • hirsutismo
  • acne
Detalhes completos

Fatores de risco

  • predisposição genética
Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

  • 17-hidroxiprogesterona (17-OHP) sérica
  • teste de estímulo com o hormônio adrenocorticotrófico (ACTH)
  • cortisol sérico
  • bioquímica sérica
  • análise genética
  • cariótipo ou hibridização fluorescente in situ (FISH) para detecção dos cromossomos X e Y
Detalhes completos

Investigações a serem consideradas

  • medição de esteroides adicionais
  • mensuração da renina plasmática/atividade da renina plasmática
  • ultrassonografia adrenal e pélvica
Detalhes completos

Algoritmo de tratamento

AGUDA

durante cirurgia, afecção febril ou outros estresses

CONTÍNUA

HAC na forma clássica

forma não clássica

Colaboradores

Autores

Maria Vogiatzi, MD

Professor of Pediatrics

Division of Endocrinology and Diabetes

Children’s Hospital of Philadelphia

Philadelphia

PA

Declarações

MV is a consultant for Spruce Bioscience, Crinetics and Eton Pharmaceuticals and receives research support from Neurocrine Bioscience, Spruce Bioscience, Adrenas Therapeutics and Crinetics Pharmaceuticals lnc.

Marissa J Kilberg, MD, MSEd

Assistant Professor of Pediatrics

Division of Endocrinology and Diabetes

Children’s Hospital of Philadelphia

Philadelphia

PA

Declarações

MK has received consulting fees from Verily, Inc. related to type 1 diabetes. MK receives salary and travel support from the Cystic Fibrosis Foundation as part of the EnVisionIII cohort. MK participates in industry sponsored research but is not the direct recipient of these grants and receives no salary support or travel support from this.

Agradecimentos

The contributors would like to gratefully acknowledge Dr Mabel Yau, Dr Ahmed Kattab, Dr Saroj Nimkarn, Dr Karen Lin-Su, Dr Oksana Lekarev, Dr Maria New, Dr Jessica Kaltman and Dr Adnan Qamar, previous contributors to this topic. MY, AK, SN, JK and AQ declare that they no competing interests. KLS is medical director of the CARES Foundation and an author of several references cited in this topic. OL is on the Medical Advisory Board of the CARES Foundation. MN is an author of several references cited in this topic.

Revisores

Richard Auchus, MD, PhD

Professor of Internal Medicine

Division of Metabolism, Endocrinology and Diabetes

University of Michigan

Ann Arbor

MI

Disclosures

RA contributed to the Endocrine Society CPG on CAH and has been on the board of directors for the past 3 years. He has conducted CAH-related contracted clinical trials and has consulted for Janssen Pharmaceuticals, Millendo Therapeutics, Spruce Biosciences, Neurocrine Biosciences, and Diurnal Ltd.

References

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

Key articles

White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev. 2000 Jun;21:245-91.Full text  Abstract

Merke DP, Auchus RJ. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. N Engl J Med. 2020 Sep 24;383(13):1248-61. Abstract

Claahsen-van der Grinten HL, Speiser PW, Ahmed SF, et al. Congenital adrenal hyperplasia-current insights in pathophysiology, diagnostics, and management. Endocr Rev. 2022 Jan 12;43(1):91-159.Full text  Abstract

Speiser PW, Arlt W, Auchus RJ, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2018 Nov 1;103(11):4043-88.Full text  Abstract

Reference articles

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
  • Hiperplasia adrenal congênita images
  • Differentials

    • hipoplasia adrenal congênita (HAC) ligada ao cromossomo X
    • Causas genéticas da insuficiência adrenal primária
    • Doença de Addison
    More Differentials
  • Guidelines

    • Guidelines on paediatric urology
    • Best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
    More Guidelines
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