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Steroid 21-monooxygenase deficiency, simple virilizing type

MedGen UID:
541266
•Concept ID:
C0268287
•
Congenital Abnormality
Synonyms: 21-hydroxylase deficiency; Adrenogenital disorder due to 21-hydroxylase deficiency; CAH - 21-hydroxylase deficiency; Congenital adrenal hyperplasia, type 1; Deficiency of steroid 21-hydroxylase; Deficiency of steroid 21-monooxygenase; Simple virilizing adrenal hyperplasia; Simple-virilizing congenital adrenal hyperplasia; Steroid 21-hydroxylase deficiency, simple virilizing type; Steroid 21-Monooxygenase Deficiency
SNOMED CT: Steroid 21-hydroxylase deficiency, simple virilizing type (52604008); Deficiency of steroid 21-hydroxylase (124221007); Deficiency of steroid 21-monooxygenase (124221007); 21-hydroxylase deficiency (124221007); CAH - 21-hydroxylase deficiency (124221007); Simple-virilizing congenital adrenal hyperplasia (52604008); Steroid 21-monooxygenase deficiency, simple virilizing type (52604008); Simple virilizing adrenal hyperplasia (52604008); Adrenogenital disorder due to 21-hydroxylase deficiency (52604008); Congenital adrenal hyperplasia, type 1 (52604008)

Definition

Less than necessary amount of the enzyme steroid 21-monooxygenase; which is necessary to synthesize cortisol. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSteroid 21-monooxygenase deficiency, simple virilizing type

Professional guidelines

PubMed

Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor.
Aycan Z, Keskin M, Lafcı NG, Savaş-Erdeve Ş, Baş F, Poyrazoğlu Ş, Öztürk P, Parlak M, Ercan O, Güran T, Hatipoğlu N, Uçaktürk SA, Çatlı G, Akyürek N, Önder A, Kılınç S, Çetinkaya S
Eur J Med Genet 2022 Dec;65(12):104654. Epub 2022 Nov 4 doi: 10.1016/j.ejmg.2022.104654. PMID: 36343887
Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency.
Xu C, Jia W, Cheng X, Ying H, Chen J, Xu J, Guan Q, Zhou X, Zheng D, Li G, Zhao J
Mol Genet Genomic Med 2019 Jun;7(6):e671. Epub 2019 Apr 9 doi: 10.1002/mgg3.671. PMID: 30968594Free PMC Article
Diagnosis and management of congenital adrenal hyperplasia: 20-year experience in Songklanagarind Hospital.
Jaruratanasirikul S, Thongseiratch T
J Med Assoc Thai 2013 Mar;96(3):288-93. PMID: 23539930

Recent clinical studies

Etiology

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
Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency.
Xu C, Jia W, Cheng X, Ying H, Chen J, Xu J, Guan Q, Zhou X, Zheng D, Li G, Zhao J
Mol Genet Genomic Med 2019 Jun;7(6):e671. Epub 2019 Apr 9 doi: 10.1002/mgg3.671. PMID: 30968594Free PMC Article
Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China.
Su L, Yin X, Cheng J, Cai Y, Wu D, Feng Z, Liu L
Clin Chim Acta 2018 Nov;486:142-150. Epub 2018 Jul 24 doi: 10.1016/j.cca.2018.07.039. PMID: 30048636
Increased Cardiovascular and Metabolic Morbidity in Patients With 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study.
Falhammar H, Frisén L, Hirschberg AL, Norrby C, Almqvist C, Nordenskjöld A, Nordenström A
J Clin Endocrinol Metab 2015 Sep;100(9):3520-8. Epub 2015 Jun 30 doi: 10.1210/JC.2015-2093. PMID: 26126207
Diagnosis and management of congenital adrenal hyperplasia: 20-year experience in Songklanagarind Hospital.
Jaruratanasirikul S, Thongseiratch T
J Med Assoc Thai 2013 Mar;96(3):288-93. PMID: 23539930

Diagnosis

Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor.
Aycan Z, Keskin M, Lafcı NG, Savaş-Erdeve Ş, Baş F, Poyrazoğlu Ş, Öztürk P, Parlak M, Ercan O, Güran T, Hatipoğlu N, Uçaktürk SA, Çatlı G, Akyürek N, Önder A, Kılınç S, Çetinkaya S
Eur J Med Genet 2022 Dec;65(12):104654. Epub 2022 Nov 4 doi: 10.1016/j.ejmg.2022.104654. PMID: 36343887
Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations.
Prado MJ, Singh S, Ligabue-Braun R, Meneghetti BV, Rispoli T, Kopacek C, Monteiro K, Zaha A, Rossetti MLR, Pandey AV
Int J Mol Sci 2021 Dec 28;23(1) doi: 10.3390/ijms23010296. PMID: 35008721Free PMC Article
Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency.
Xu C, Jia W, Cheng X, Ying H, Chen J, Xu J, Guan Q, Zhou X, Zheng D, Li G, Zhao J
Mol Genet Genomic Med 2019 Jun;7(6):e671. Epub 2019 Apr 9 doi: 10.1002/mgg3.671. PMID: 30968594Free PMC Article
Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China.
Su L, Yin X, Cheng J, Cai Y, Wu D, Feng Z, Liu L
Clin Chim Acta 2018 Nov;486:142-150. Epub 2018 Jul 24 doi: 10.1016/j.cca.2018.07.039. PMID: 30048636
Diagnosis and management of congenital adrenal hyperplasia: 20-year experience in Songklanagarind Hospital.
Jaruratanasirikul S, Thongseiratch T
J Med Assoc Thai 2013 Mar;96(3):288-93. PMID: 23539930

Therapy

Fractures and bone mineral density in adult women with 21-hydroxylase deficiency.
Falhammar H, Filipsson H, Holmdahl G, Janson PO, Nordenskjöld A, Hagenfeldt K, Thorén M
J Clin Endocrinol Metab 2007 Dec;92(12):4643-9. Epub 2007 Sep 18 doi: 10.1210/jc.2007-0744. PMID: 17878254

Prognosis

Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations.
Prado MJ, Singh S, Ligabue-Braun R, Meneghetti BV, Rispoli T, Kopacek C, Monteiro K, Zaha A, Rossetti MLR, Pandey AV
Int J Mol Sci 2021 Dec 28;23(1) doi: 10.3390/ijms23010296. PMID: 35008721Free PMC Article
Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency.
Xu C, Jia W, Cheng X, Ying H, Chen J, Xu J, Guan Q, Zhou X, Zheng D, Li G, Zhao J
Mol Genet Genomic Med 2019 Jun;7(6):e671. Epub 2019 Apr 9 doi: 10.1002/mgg3.671. PMID: 30968594Free PMC Article
Testicular adrenal rest tumors in patients with congenital adrenal hyperplasia.
Çakir ED, Mutlu FS, Eren E, Paşa AO, Sağlam H, Tarim O
J Clin Res Pediatr Endocrinol 2012 Jun;4(2):94-100. doi: 10.4274/jcrpe.563. PMID: 22672867Free PMC Article
Identification and functional characterization of a novel mutation P459H and a rare mutation R483W in the CYP21A2 gene in two Chinese patients with simple virilizing form of congenital adrenal hyperplasia.
Jiang L, Song LL, Wang H, Wang JL, Wang PP, Zhou HB, Zhang XL
J Endocrinol Invest 2012 May;35(5):485-9. Epub 2011 Jul 12 doi: 10.3275/7860. PMID: 21750395
Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system.
Bleicken C, Loidi L, Dhir V, Parajes S, Quinteiro C, Dominguez F, Grötzinger J, Sippell WG, Riepe FG, Arlt W, Krone N
Hum Mutat 2009 Feb;30(2):E443-50. doi: 10.1002/humu.20926. PMID: 19058224

Clinical prediction guides

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
Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations.
Prado MJ, Singh S, Ligabue-Braun R, Meneghetti BV, Rispoli T, Kopacek C, Monteiro K, Zaha A, Rossetti MLR, Pandey AV
Int J Mol Sci 2021 Dec 28;23(1) doi: 10.3390/ijms23010296. PMID: 35008721Free PMC Article
Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency.
Xu C, Jia W, Cheng X, Ying H, Chen J, Xu J, Guan Q, Zhou X, Zheng D, Li G, Zhao J
Mol Genet Genomic Med 2019 Jun;7(6):e671. Epub 2019 Apr 9 doi: 10.1002/mgg3.671. PMID: 30968594Free PMC Article
Increased Cardiovascular and Metabolic Morbidity in Patients With 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study.
Falhammar H, Frisén L, Hirschberg AL, Norrby C, Almqvist C, Nordenskjöld A, Nordenström A
J Clin Endocrinol Metab 2015 Sep;100(9):3520-8. Epub 2015 Jun 30 doi: 10.1210/JC.2015-2093. PMID: 26126207
Fractures and bone mineral density in adult women with 21-hydroxylase deficiency.
Falhammar H, Filipsson H, Holmdahl G, Janson PO, Nordenskjöld A, Hagenfeldt K, Thorén M
J Clin Endocrinol Metab 2007 Dec;92(12):4643-9. Epub 2007 Sep 18 doi: 10.1210/jc.2007-0744. PMID: 17878254

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

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