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Non-classic congenital adrenal hyperplasia

MedGen UID:
90982
•Concept ID:
C0342467
•
Disease or Syndrome
Synonyms: Attenuated congenital adrenal hyperplasia; Late-onset congenital adrenal hyperplasia
SNOMED CT: Late onset congenital adrenal hyperplasia (237754008)
 
Monarch Initiative: MONDO:0023601

Definition

A milder form of congenital adrenal hyperplasia characterized by decreased activity of an enzyme in the steroidogenic pathway, typically presenting later in life, that does not require life-long cortisol replacement. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNon-classic congenital adrenal hyperplasia

Professional guidelines

PubMed

Editorial: Non-classic congenital adrenal hyperplasia caused with common and rare forms: Unresolved issues and implications on clinical management.
Li Y, Tian Q, Kuang Y, Yang D
Front Endocrinol (Lausanne) 2023;14:1145352. Epub 2023 Feb 1 doi: 10.3389/fendo.2023.1145352. PMID: 36817593Free PMC Article
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: 36578966Free 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: 24622419Free PMC Article

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: 36704043Free PMC Article
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
The prevalence of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Russian women with hyperandrogenism.
Grodnitskaya E, Kurtser M
Hum Fertil (Camb) 2018 Dec;21(4):281-287. Epub 2017 Jul 3 doi: 10.1080/14647273.2017.1344360. PMID: 28669219
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
The effect of metformin on androgen production in diabetic women with non-classic congenital adrenal hyperplasia.
Krysiak R, Okopien B
Exp Clin Endocrinol Diabetes 2014 Nov;122(10):568-71. Epub 2014 Jul 23 doi: 10.1055/s-0034-1382048. PMID: 25054311

Diagnosis

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: 36578966Free PMC Article
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
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
The Many Faces of Non-Classic Congenital Adrenal Hyperplasia.
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
Non-classic congenital adrenal hyperplasia.
Witchel SF
Steroids 2013 Aug;78(8):747-50. Epub 2013 Apr 28 doi: 10.1016/j.steroids.2013.04.010. PMID: 23632099

Therapy

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: 36578966Free PMC Article
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
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: 24622419Free PMC Article
Non-classic congenital adrenal hyperplasia.
Witchel SF
Steroids 2013 Aug;78(8):747-50. Epub 2013 Apr 28 doi: 10.1016/j.steroids.2013.04.010. PMID: 23632099
Non-classic congenital adrenal hyperplasia.
Kelestimur F
Pediatr Endocrinol Rev 2006 Aug;3 Suppl 3:451-4. PMID: 17551465

Prognosis

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: 36704043Free PMC Article
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
The prevalence of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Russian women with hyperandrogenism.
Grodnitskaya E, Kurtser M
Hum Fertil (Camb) 2018 Dec;21(4):281-287. Epub 2017 Jul 3 doi: 10.1080/14647273.2017.1344360. PMID: 28669219

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: 36936152Free PMC Article
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: 36704043Free PMC Article
Non-Classic Disorder of Adrenal Steroidogenesis and Clinical Dilemmas in 21-Hydroxylase Deficiency Combined with Backdoor Androgen Pathway. Mini-Review and Case Report.
Sumińska M, Bogusz-Górna K, Wegner D, Fichna M
Int J Mol Sci 2020 Jun 29;21(13) doi: 10.3390/ijms21134622. PMID: 32610579Free PMC Article
Genetic defects of the CYP21A2 gene in girls with premature adrenarche.
Skordis N, Shammas C, Phedonos AA, Kyriakou A, Toumba M, Neocleous V, Phylactou LA
J Endocrinol Invest 2015 May;38(5):535-9. Epub 2014 Dec 7 doi: 10.1007/s40618-014-0223-1. PMID: 25481255
The effect of simvastatin treatment on plasma steroid levels in females with non-classic congenital adrenal hyperplasia.
Krysiak R, Okopien B
Exp Clin Endocrinol Diabetes 2013 Nov;121(10):643-6. Epub 2013 Sep 20 doi: 10.1055/s-0033-1355383. PMID: 24057511

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

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