Резюме
Определение
Анамнез и осмотр
Ключевые диагностические факторы
- weight loss
- failure to thrive
- vomiting
- hypotension
- atypical genitalia
- hyperpigmentation
Другие диагностические факторы
- short stature
- precocious puberty
- irregular menses
- infertility
- male-pattern baldness (females)
- polycystic ovaries
- hirsutism
- acne
Факторы риска
- genetic predisposition
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
Исследования, проведение которых нужно рассмотреть
- measurement of additional steroids
- plasma renin activity/plasma renin measurement
- pelvic and adrenal ultrasound
Алгоритм лечения
during surgery, febrile illness, or other stress
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
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
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Отличия
- X-linked adrenal hypoplasia congenita (AHC)
- Genetic causes of primary adrenal insufficiency
- Addison disease
Больше ОтличияРекомендации
- Best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
- Screening and management of the hyperandrogenic adolescent
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