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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

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVClassic congenital adrenal hyperplasia

Phenotypic abnormality
- Abnormality of the endocrine system
  - Abnormal endocrine morphology
    - Abnormal adrenal morphology
      - Adrenal hyperplasia
        Congenital adrenal hyperplasia
        Classic congenital adrenal hyperplasia

Professional guidelines

PubMed

Challenges in treatment of patients with non-classic congenital adrenal hyperplasia.

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: 36578966 Free PMC Article

Challenges in Prenatal Treatment with Dexamethasone.

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: 30371037 Free PMC Article

Management of adolescents with congenital adrenal hyperplasia.

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: 24622419 Free PMC Article

See all (25)

Recent clinical studies

Etiology

Screening for non-classic congenital adrenal hyperplasia in women: New insights using different immunoassays.

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: 36704043 Free PMC Article

Classic congenital adrenal hyperplasia and its impact on reproduction.

Gomes LG, Bachega TASS, Mendonca BB
Fertil Steril 2019 Jan;111(1):7-12. doi: 10.1016/j.fertnstert.2018.11.037. PMID: 30611420

Challenges in Prenatal Treatment with Dexamethasone.

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - the next disease included in the neonatal screening program in Poland.

Ginalska-Malinowska M
Dev Period Med 2018;22(2):197-200. doi: 10.34763/devperiodmed.20182202.197200. PMID: 30056407 Free PMC Article

Substitution therapy in adult patients with congenital adrenal hyperplasia.

Reisch N
Best Pract Res Clin Endocrinol Metab 2015 Jan;29(1):33-45. Epub 2014 Nov 14 doi: 10.1016/j.beem.2014.11.002. PMID: 25617171

See all (95)

Diagnosis

Challenges in treatment of patients with non-classic congenital adrenal hyperplasia.

Crinecerfont Lowers Elevated Hormone Markers in Adults With 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia.

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: 34653252 Free PMC Article

Pregnancy in Congenital Adrenal Hyperplasia.

Reisch N
Endocrinol Metab Clin North Am 2019 Sep;48(3):619-641. doi: 10.1016/j.ecl.2019.05.011. PMID: 31345527

Classic congenital adrenal hyperplasia and its impact on reproduction.

Gomes LG, Bachega TASS, Mendonca BB
Fertil Steril 2019 Jan;111(1):7-12. doi: 10.1016/j.fertnstert.2018.11.037. PMID: 30611420

Classic congenital adrenal hyperplasia.

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

See all (95)

Therapy

Challenges in treatment of patients with non-classic congenital adrenal hyperplasia.

Novel treatments for congenital adrenal hyperplasia.

Schröder MAM, Claahsen-van der Grinten HL
Rev Endocr Metab Disord 2022 Jun;23(3):631-645. Epub 2022 Feb 23 doi: 10.1007/s11154-022-09717-w. PMID: 35199280 Free PMC Article

Crinecerfont Lowers Elevated Hormone Markers in Adults With 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia.

Pregnancy in Congenital Adrenal Hyperplasia.

Reisch N
Endocrinol Metab Clin North Am 2019 Sep;48(3):619-641. doi: 10.1016/j.ecl.2019.05.011. PMID: 31345527

Classic congenital adrenal hyperplasia.

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

See all (59)

Prognosis

Screening for non-classic congenital adrenal hyperplasia in women: New insights using different immunoassays.

Tildacerfont in Adults With Classic Congenital Adrenal Hyperplasia: Results from Two Phase 2 Studies.

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: 34146101 Free PMC Article

Serum Fetuin-A and Insulin Levels in Classic Congenital Adrenal Hyperplasia.

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

Cardiometabolic risk factors in women with non-classic congenital adrenal hyperplasia.

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

Pregnancy in Congenital Adrenal Hyperplasia.

Reisch N
Endocrinol Metab Clin North Am 2019 Sep;48(3):619-641. doi: 10.1016/j.ecl.2019.05.011. PMID: 31345527

See all (28)

Clinical prediction guides

Case Report: Anastrozole as a monotherapy for pre-pubertal children with non-classic congenital adrenal hyperplasia.

Liu SC, Suresh M, Jaber M, Mercado Munoz Y, Sarafoglou K
Front Endocrinol (Lausanne) 2023;14:1101843. Epub 2023 Mar 2 doi: 10.3389/fendo.2023.1101843. PMID: 36936152 Free PMC Article

Screening for non-classic congenital adrenal hyperplasia in women: New insights using different immunoassays.

Serum Fetuin-A and Insulin Levels in Classic Congenital Adrenal Hyperplasia.

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

Birth Size in Neonates with Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency.

Dörr HG, Penger T, Albrecht A, Marx M, Völkl TMK
J Clin Res Pediatr Endocrinol 2019 Feb 20;11(1):41-45. Epub 2018 Sep 4 doi: 10.4274/jcrpe.galenos.2018.2018.0149. PMID: 30178749 Free PMC Article

Cognitive function in children with classic congenital adrenal hyperplasia.

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

See all (56)

Recent systematic reviews

Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women.

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

See all (1)

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Classic congenital adrenal hyperplasia

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

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