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21-Hydroxylase Deficiency

MedGen UID:
468578
•Concept ID:
C0852654
•
Disease or Syndrome

Definition

A classic form of congenital adrenal hyperplasia that is characterized by severe 21-hydroxylase deficiency, resulting in glucocorticoid and mineralocorticoid deficiency, without clinically significant salt wasting, and androgen excess, which causes virilization in female infants. [from NCI]

Professional guidelines

PubMed

Management challenges and therapeutic advances in congenital adrenal hyperplasia.
Mallappa A, Merke DP
Nat Rev Endocrinol 2022 Jun;18(6):337-352. Epub 2022 Apr 11 doi: 10.1038/s41574-022-00655-w. PMID: 35411073Free PMC Article
Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.
Claahsen-van der Grinten HL, Speiser PW, Ahmed SF, Arlt W, Auchus RJ, Falhammar H, Flück CE, Guasti L, Huebner A, Kortmann BBM, Krone N, Merke DP, Miller WL, Nordenström A, Reisch N, Sandberg DE, Stikkelbroeck NMML, Touraine P, Utari A, Wudy SA, White PC
Endocr Rev 2022 Jan 12;43(1):91-159. doi: 10.1210/endrev/bnab016. PMID: 33961029Free PMC Article
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline.
Speiser PW, Arlt W, Auchus RJ, Baskin LS, Conway GS, Merke DP, Meyer-Bahlburg HFL, Miller WL, Murad MH, Oberfield SE, White PC
J Clin Endocrinol Metab 2018 Nov 1;103(11):4043-4088. doi: 10.1210/jc.2018-01865. PMID: 30272171Free PMC Article

Recent clinical studies

Etiology

The management of congenital adrenal hyperplasia during preconception, pregnancy, and postpartum.
Maher JY, Gomez-Lobo V, Merke DP
Rev Endocr Metab Disord 2023 Feb;24(1):71-83. Epub 2022 Nov 18 doi: 10.1007/s11154-022-09770-5. PMID: 36399318Free PMC Article
Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.
Claahsen-van der Grinten HL, Speiser PW, Ahmed SF, Arlt W, Auchus RJ, Falhammar H, Flück CE, Guasti L, Huebner A, Kortmann BBM, Krone N, Merke DP, Miller WL, Nordenström A, Reisch N, Sandberg DE, Stikkelbroeck NMML, Touraine P, Utari A, Wudy SA, White PC
Endocr Rev 2022 Jan 12;43(1):91-159. doi: 10.1210/endrev/bnab016. PMID: 33961029Free PMC Article
Nonclassic Congenital Adrenal Hyperplasia: What Do Endocrinologists Need to Know?
Jha S, Turcu AF
Endocrinol Metab Clin North Am 2021 Mar;50(1):151-165. Epub 2021 Jan 9 doi: 10.1016/j.ecl.2020.10.008. PMID: 33518183Free PMC Article
Congenital adrenal hyperplasia: clinical symptoms and diagnostic methods.
Podgórski R, Aebisher D, Stompor M, Podgórska D, Mazur A
Acta Biochim Pol 2018;65(1):25-33. Epub 2018 Mar 15 doi: 10.18388/abp.2017_2343. PMID: 29543924
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
Simonetti L, Bruque CD, Fernández CS, Benavides-Mori B, Delea M, Kolomenski JE, Espeche LD, Buzzalino ND, Nadra AD, Dain L
Hum Mutat 2018 Jan;39(1):5-22. Epub 2017 Nov 6 doi: 10.1002/humu.23351. PMID: 29035424

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
Nonclassic Congenital Adrenal Hyperplasia: What Do Endocrinologists Need to Know?
Jha S, Turcu AF
Endocrinol Metab Clin North Am 2021 Mar;50(1):151-165. Epub 2021 Jan 9 doi: 10.1016/j.ecl.2020.10.008. PMID: 33518183Free PMC Article
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Merke DP, Auchus RJ
N Engl J Med 2020 Sep 24;383(13):1248-1261. doi: 10.1056/NEJMra1909786. PMID: 32966723
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline.
Speiser PW, Arlt W, Auchus RJ, Baskin LS, Conway GS, Merke DP, Meyer-Bahlburg HFL, Miller WL, Murad MH, Oberfield SE, White PC
J Clin Endocrinol Metab 2018 Nov 1;103(11):4043-4088. doi: 10.1210/jc.2018-01865. PMID: 30272171Free PMC Article
Congenital adrenal hyperplasia: clinical symptoms and diagnostic methods.
Podgórski R, Aebisher D, Stompor M, Podgórska D, Mazur A
Acta Biochim Pol 2018;65(1):25-33. Epub 2018 Mar 15 doi: 10.18388/abp.2017_2343. PMID: 29543924

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
Modified-Release Hydrocortisone in Congenital Adrenal Hyperplasia.
Merke DP, Mallappa A, Arlt W, Brac de la Perriere A, Lindén Hirschberg A, Juul A, Newell-Price J, Perry CG, Prete A, Rees DA, Reisch N, Stikkelbroeck N, Touraine P, Maltby K, Treasure FP, Porter J, Ross RJ
J Clin Endocrinol Metab 2021 Apr 23;106(5):e2063-e2077. doi: 10.1210/clinem/dgab051. PMID: 33527139Free PMC Article
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Merke DP, Auchus RJ
N Engl J Med 2020 Sep 24;383(13):1248-1261. doi: 10.1056/NEJMra1909786. PMID: 32966723
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline.
Speiser PW, Arlt W, Auchus RJ, Baskin LS, Conway GS, Merke DP, Meyer-Bahlburg HFL, Miller WL, Murad MH, Oberfield SE, White PC
J Clin Endocrinol Metab 2018 Nov 1;103(11):4043-4088. doi: 10.1210/jc.2018-01865. PMID: 30272171Free PMC Article
Congenital adrenal hyperplasia.
El-Maouche D, Arlt W, Merke DP
Lancet 2017 Nov 11;390(10108):2194-2210. Epub 2017 May 30 doi: 10.1016/S0140-6736(17)31431-9. PMID: 28576284

Prognosis

Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach.
Arriba M, Ezquieta B
Front Endocrinol (Lausanne) 2022;13:834549. Epub 2022 Mar 29 doi: 10.3389/fendo.2022.834549. PMID: 35422767Free PMC Article
Modified-Release Hydrocortisone in Congenital Adrenal Hyperplasia.
Merke DP, Mallappa A, Arlt W, Brac de la Perriere A, Lindén Hirschberg A, Juul A, Newell-Price J, Perry CG, Prete A, Rees DA, Reisch N, Stikkelbroeck N, Touraine P, Maltby K, Treasure FP, Porter J, Ross RJ
J Clin Endocrinol Metab 2021 Apr 23;106(5):e2063-e2077. doi: 10.1210/clinem/dgab051. PMID: 33527139Free PMC Article
Congenital Adrenal Hyperplasia.
Török D
Exp Suppl 2019;111:245-260. doi: 10.1007/978-3-030-25905-1_12. PMID: 31588535
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
Congenital adrenal hyperplasia.
El-Maouche D, Arlt W, Merke DP
Lancet 2017 Nov 11;390(10108):2194-2210. Epub 2017 May 30 doi: 10.1016/S0140-6736(17)31431-9. PMID: 28576284

Clinical prediction guides

Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach.
Arriba M, Ezquieta B
Front Endocrinol (Lausanne) 2022;13:834549. Epub 2022 Mar 29 doi: 10.3389/fendo.2022.834549. PMID: 35422767Free PMC Article
21-Deoxycortisol is a Key Screening Marker for 21-Hydroxylase Deficiency.
Held PK, Bialk ER, Lasarev MR, Allen DB
J Pediatr 2022 Mar;242:213-219.e1. Epub 2021 Nov 13 doi: 10.1016/j.jpeds.2021.10.063. PMID: 34780778
Modified-Release Hydrocortisone in Congenital Adrenal Hyperplasia.
Merke DP, Mallappa A, Arlt W, Brac de la Perriere A, Lindén Hirschberg A, Juul A, Newell-Price J, Perry CG, Prete A, Rees DA, Reisch N, Stikkelbroeck N, Touraine P, Maltby K, Treasure FP, Porter J, Ross RJ
J Clin Endocrinol Metab 2021 Apr 23;106(5):e2063-e2077. doi: 10.1210/clinem/dgab051. PMID: 33527139Free PMC Article
Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
New MI, Abraham M, Gonzalez B, Dumic M, Razzaghy-Azar M, Chitayat D, Sun L, Zaidi M, Wilson RC, Yuen T
Proc Natl Acad Sci U S A 2013 Feb 12;110(7):2611-6. Epub 2013 Jan 28 doi: 10.1073/pnas.1300057110. PMID: 23359698Free PMC Article
Nonclassic 21-hydroxylase deficiency.
Dewailly D
Semin Reprod Med 2002 Aug;20(3):243-8. doi: 10.1055/s-2002-35388. PMID: 12428204

Recent systematic reviews

Ethnic and National Differences in Congenital Adrenal Hyperplasia Incidence: A Systematic Review and Meta-Analysis.
Navarro-Zambrana AN, Sheets LR
Horm Res Paediatr 2023;96(3):249-258. Epub 2022 Aug 16 doi: 10.1159/000526401. PMID: 35973409
Getting pregnant with congenital adrenal hyperplasia: Assisted reproduction and pregnancy complications. A systematic review and meta-analysis.
Guo X, Zhang Y, Yu Y, Zhang L, Ullah K, Ji M, Jin B, Shu J
Front Endocrinol (Lausanne) 2022;13:982953. Epub 2022 Aug 31 doi: 10.3389/fendo.2022.982953. PMID: 36120452Free PMC Article
Congenital Adrenal Hyperplasia and Brain Health: A Systematic Review of Structural, Functional, and Diffusion Magnetic Resonance Imaging (MRI) Investigations.
Khalifeh N, Omary A, Cotter DL, Kim MS, Geffner ME, Herting MM
J Child Neurol 2022 Aug;37(8-9):758-783. Epub 2022 Jun 23 doi: 10.1177/08830738221100886. PMID: 35746874Free 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
Prenatal dexamethasone use for the prevention of virilization in pregnancies at risk for classical congenital adrenal hyperplasia because of 21-hydroxylase (CYP21A2) deficiency: a systematic review and meta-analyses.
Mercè Fernández-Balsells M, Muthusamy K, Smushkin G, Lampropulos JF, Elamin MB, Abu Elnour NO, Elamin KB, Agrwal N, Gallegos-Orozco JF, Lane MA, Erwin PJ, Montori VM, Murad MH
Clin Endocrinol (Oxf) 2010 Oct;73(4):436-44. doi: 10.1111/j.1365-2265.2010.03826.x. PMID: 20550539

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