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Congenital adrenal hyperplasia

Последний просмотренный: 8 Jun 2025
Last updated: 11 Dec 2024

Резюме

Определение

Анамнез и осмотр

Ключевые диагностические факторы

  • weight loss
  • failure to thrive
  • vomiting
  • hypotension
  • atypical genitalia
  • hyperpigmentation
Полная информация

Другие диагностические факторы

  • short stature
  • precocious puberty
  • irregular menses
  • infertility
  • male-pattern baldness (females)
  • polycystic ovaries
  • hirsutism
  • acne
Полная информация

Факторы риска

  • genetic predisposition
Полная информация

Диагностические исследования

Исследования, которые показаны в первую очередь

  • serum 17-hydroxyprogesterone (17-OHP)
  • adrenocorticotropic hormone (ACTH) stimulation test
  • serum cortisol
  • serum chemistry
  • genetic analysis
  • karyotype or fluorescence in situ hybridization (FISH) for X and Y chromosome detection
Полная информация

Исследования, проведение которых нужно рассмотреть

  • measurement of additional steroids
  • plasma renin activity/plasma renin measurement
  • pelvic and adrenal ultrasound
Полная информация

Алгоритм лечения

Острый

during surgery, febrile illness, or other stress

ПРОДОЛЖЕНИЕ

classical CAH form

nonclassical form

Составители

Авторы

Maria Vogiatzi, MD

Professor of Pediatrics

Division of Endocrinology and Diabetes

Children’s Hospital of Philadelphia

Philadelphia

PA

Раскрытие информации

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

Раскрытие информации

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.

Выражение благодарностей

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 have 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.

Рецензенты

Richard Auchus, MD, PhD

Professor of Internal Medicine

Division of Metabolism, Endocrinology and Diabetes

University of Michigan

Ann Arbor

MI

Раскрытие информации

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.

Список литературы

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Основные статьи

White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev. 2000 Jun;21(3):245-91.Полный текст  Аннотация

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

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.Полный текст  Аннотация

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.Полный текст  Аннотация

Статьи, указанные как источники

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