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Classic congenital adrenal hyperplasia

MedGen UID:
1390311
Concept ID:
C4329672
Disease or Syndrome
Synonyms: classic CAH; Classic Congenital Adrenal Hyperplasia; classic congenital adrenal hyperplasia
 
Monarch Initiative: MONDO:0060783

Definition

A severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVClassic congenital adrenal hyperplasia

Professional guidelines

PubMed

Adriaansen BPH, Schröder MAM, Span PN, Sweep FCGJ, van Herwaarden AE, Claahsen-van der Grinten HL
Front Endocrinol (Lausanne) 2022;13:1064024. Epub 2022 Dec 12 doi: 10.3389/fendo.2022.1064024. PMID: 36578966Free PMC Article
Gaudino R, Pecoraro L, Martini L, Salvottini C, Antoniazzi F, Piacentini G, Cavarzere P
Minerva Pediatr (Torino) 2021 Jun;73(3):285-287. Epub 2020 Apr 2 doi: 10.23736/S2724-5276.20.05594-2. PMID: 32241101
Merke DP, Poppas DP
Lancet Diabetes Endocrinol 2013 Dec;1(4):341-52. Epub 2013 Nov 15 doi: 10.1016/S2213-8587(13)70138-4. PMID: 24622419Free PMC Article

Recent clinical studies

Etiology

Eitel KB, Fechner PY
J Clin Endocrinol Metab 2025 Jan 21;110(Supplement_1):S67-S73. doi: 10.1210/clinem/dgae710. PMID: 39836619Free PMC Article
Krysiak R, Claahsen-van der Grinten HL, Reisch N, Touraine P, Falhammar H
Endocr Rev 2025 Jan 10;46(1):80-148. doi: 10.1210/endrev/bnae026. PMID: 39240753Free PMC Article
Sarafoglou K, Kim MS, Lodish M, Felner EI, Martinerie L, Nokoff NJ, Clemente M, Fechner PY, Vogiatzi MG, Speiser PW, Auchus RJ, Rosales GBG, Roberts E, Jeha GS, Farber RH, Chan JL; CAHtalyst Pediatric Trial Investigators
N Engl J Med 2024 Aug 8;391(6):493-503. Epub 2024 Jun 2 doi: 10.1056/NEJMoa2404655. PMID: 38828945
Sarafoglou K, Barnes CN, Huang M, Imel EA, Madu IJ, Merke DP, Moriarty D, Nakhle S, Newfield RS, Vogiatzi MG, Auchus RJ
J Clin Endocrinol Metab 2021 Oct 21;106(11):e4666-e4679. doi: 10.1210/clinem/dgab438. PMID: 34146101Free PMC Article
Gomes LG, Bachega TASS, Mendonca BB
Fertil Steril 2019 Jan;111(1):7-12. doi: 10.1016/j.fertnstert.2018.11.037. PMID: 30611420

Diagnosis

Adriaansen BPH, Schröder MAM, Span PN, Sweep FCGJ, van Herwaarden AE, Claahsen-van der Grinten HL
Front Endocrinol (Lausanne) 2022;13:1064024. Epub 2022 Dec 12 doi: 10.3389/fendo.2022.1064024. PMID: 36578966Free PMC Article
Auchus RJ, Sarafoglou K, Fechner PY, Vogiatzi MG, Imel EA, Davis SM, Giri N, Sturgeon J, Roberts E, Chan JL, Farber RH
J Clin Endocrinol Metab 2022 Feb 17;107(3):801-812. doi: 10.1210/clinem/dgab749. PMID: 34653252Free PMC Article
Reisch N
Endocrinol Metab Clin North Am 2019 Sep;48(3):619-641. doi: 10.1016/j.ecl.2019.05.011. PMID: 31345527
Ayalon-Dangur I, Segev-Becker A, Ayalon I, Eyal O, Israel S, Weintrob N
Isr Med Assoc J 2017 May;19(5):317-322. PMID: 28513122
Nermoen I, Husebye ES, Myhre AG, Løvås K
Tidsskr Nor Laegeforen 2017 Apr;137(7):540-543. Epub 2017 Apr 4 doi: 10.4045/tidsskr.16.0376. PMID: 28383228

Therapy

Sarafoglou K, Kim MS, Lodish M, Felner EI, Martinerie L, Nokoff NJ, Clemente M, Fechner PY, Vogiatzi MG, Speiser PW, Auchus RJ, Rosales GBG, Roberts E, Jeha GS, Farber RH, Chan JL; CAHtalyst Pediatric Trial Investigators
N Engl J Med 2024 Aug 8;391(6):493-503. Epub 2024 Jun 2 doi: 10.1056/NEJMoa2404655. PMID: 38828945
Adriaansen BPH, Schröder MAM, Span PN, Sweep FCGJ, van Herwaarden AE, Claahsen-van der Grinten HL
Front Endocrinol (Lausanne) 2022;13:1064024. Epub 2022 Dec 12 doi: 10.3389/fendo.2022.1064024. PMID: 36578966Free PMC Article
Auchus RJ, Sarafoglou K, Fechner PY, Vogiatzi MG, Imel EA, Davis SM, Giri N, Sturgeon J, Roberts E, Chan JL, Farber RH
J Clin Endocrinol Metab 2022 Feb 17;107(3):801-812. doi: 10.1210/clinem/dgab749. PMID: 34653252Free PMC Article
Reisch N
Endocrinol Metab Clin North Am 2019 Sep;48(3):619-641. doi: 10.1016/j.ecl.2019.05.011. PMID: 31345527
Nermoen I, Husebye ES, Myhre AG, Løvås K
Tidsskr Nor Laegeforen 2017 Apr;137(7):540-543. Epub 2017 Apr 4 doi: 10.4045/tidsskr.16.0376. PMID: 28383228

Prognosis

Peltek Kendirci HN, Ünal E, Dündar İ, Buluş AD, Odabaşı Güneş S, Şıklar Z
J Clin Res Pediatr Endocrinol 2025 Jan 10;17(Suppl 1):12-22. Epub 2024 Dec 23 doi: 10.4274/jcrpe.galenos.2024.2024-6-26-S. PMID: 39713876Free PMC Article
Nakhleh A, Saiegh L, Shehadeh N, Weintrob N, Sheikh-Ahmad M, Supino-Rosin L, Alboim S, Gendelman R, Zloczower M
Front Endocrinol (Lausanne) 2022;13:1048663. Epub 2023 Jan 10 doi: 10.3389/fendo.2022.1048663. PMID: 36704043Free PMC Article
Sarafoglou K, Barnes CN, Huang M, Imel EA, Madu IJ, Merke DP, Moriarty D, Nakhle S, Newfield RS, Vogiatzi MG, Auchus RJ
J Clin Endocrinol Metab 2021 Oct 21;106(11):e4666-e4679. doi: 10.1210/clinem/dgab438. PMID: 34146101Free PMC Article
Krysiak R, Kowalcze K, Marek B, Okopień B
Acta Cardiol 2020 Dec;75(8):705-710. Epub 2019 Sep 20 doi: 10.1080/00015385.2019.1666964. PMID: 31538536
Reisch N
Endocrinol Metab Clin North Am 2019 Sep;48(3):619-641. doi: 10.1016/j.ecl.2019.05.011. PMID: 31345527

Clinical prediction guides

Sarafoglou K, Kim MS, Lodish M, Felner EI, Martinerie L, Nokoff NJ, Clemente M, Fechner PY, Vogiatzi MG, Speiser PW, Auchus RJ, Rosales GBG, Roberts E, Jeha GS, Farber RH, Chan JL; CAHtalyst Pediatric Trial Investigators
N Engl J Med 2024 Aug 8;391(6):493-503. Epub 2024 Jun 2 doi: 10.1056/NEJMoa2404655. PMID: 38828945
Nakhleh A, Saiegh L, Shehadeh N, Weintrob N, Sheikh-Ahmad M, Supino-Rosin L, Alboim S, Gendelman R, Zloczower M
Front Endocrinol (Lausanne) 2022;13:1048663. Epub 2023 Jan 10 doi: 10.3389/fendo.2022.1048663. PMID: 36704043Free PMC Article
Oliveira NM, Langer RD, Lemos-Marini SHV, Guerra-Júnior G, Gonçalves EM
J Am Nutr Assoc 2022 May-Jun;41(4):407-414. Epub 2021 Mar 25 doi: 10.1080/07315724.2021.1895902. PMID: 33764276
Messina V, Hirvikoski T, Karlsson L, Vissani S, Wallensteen L, Ortolano R, Balsamo A, Nordenström A, Lajic S
Endocrine 2020 May;68(2):427-437. Epub 2020 Mar 9 doi: 10.1007/s12020-020-02244-1. PMID: 32152914Free PMC Article
Hamed SA, Metwalley KA, Farghaly HS
Eur J Pediatr 2018 Nov;177(11):1633-1640. Epub 2018 Aug 7 doi: 10.1007/s00431-018-3226-7. PMID: 30088136

Recent systematic reviews

Carmina E, Dewailly D, Escobar-Morreale HF, Kelestimur F, Moran C, Oberfield S, Witchel SF, Azziz R
Hum Reprod Update 2017 Sep 1;23(5):580-599. doi: 10.1093/humupd/dmx014. PMID: 28582566

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