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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
McCann-Crosby B, Placencia FX, Adeyemi-Fowode O, Dietrich J, Franciskovich R, Gunn S, Axelrad M, Tu D, Mann D, Karaviti L, Sutton VR
Pediatr Endocrinol Rev 2018 Sep;16(1):186-193. doi: 10.17458/per.vol16.2018.mcpa.dexamethasone. PMID: 30371037Free PMC Article
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

Gomes LG, Bachega TASS, Mendonca BB
Fertil Steril 2019 Jan;111(1):7-12. doi: 10.1016/j.fertnstert.2018.11.037. PMID: 30611420
McCann-Crosby B, Placencia FX, Adeyemi-Fowode O, Dietrich J, Franciskovich R, Gunn S, Axelrad M, Tu D, Mann D, Karaviti L, Sutton VR
Pediatr Endocrinol Rev 2018 Sep;16(1):186-193. doi: 10.17458/per.vol16.2018.mcpa.dexamethasone. PMID: 30371037Free PMC Article
Ginalska-Malinowska M
Dev Period Med 2018;22(2):197-200. doi: 10.34763/devperiodmed.20182202.197200. PMID: 30056407Free PMC Article
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
Charmandari E, Brook CG, Hindmarsh PC
Eur J Endocrinol 2004 Nov;151 Suppl 3:U77-82. doi: 10.1530/eje.0.151u077. PMID: 15554890

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
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
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

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
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
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

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
Kurnaz E, Çetinkaya S, Özalkak Ş, Bayramoğlu E, Demirci G, Öztürk HS, Erdeve ŞS, Aycan Z
Horm Metab Res 2020 Sep;52(9):654-659. Epub 2020 Feb 27 doi: 10.1055/a-1116-2173. PMID: 32108931
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

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
Kurnaz E, Çetinkaya S, Özalkak Ş, Bayramoğlu E, Demirci G, Öztürk HS, Erdeve ŞS, Aycan Z
Horm Metab Res 2020 Sep;52(9):654-659. Epub 2020 Feb 27 doi: 10.1055/a-1116-2173. PMID: 32108931
Messina V, Karlsson L, Hirvikoski T, Nordenström A, Lajic S
J Clin Endocrinol Metab 2020 Mar 1;105(3):e683-91. doi: 10.1210/clinem/dgaa016. PMID: 31927590Free 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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