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Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form

MedGen UID:
1826061
•Concept ID:
C5679895
•
Disease or Syndrome
Synonyms: Classic 21-OHD CAH, simple virilizing form; classic 21-OHD CAH, simple virilizing form; classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017840
Orphanet: ORPHA315311

Definition

A form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency characterized by abnormal genital development with variable levels of virilization in females, and normal genitalia in males in association with glucocorticoid insufficiency with absence of salt-wasting, accelerated growth velocity and bone maturation, premature adrenarche and precocious puberty leading to reduced adult height. Females have a normal uterus and various degrees of abnormal vaginal development. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVClassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form

Professional guidelines

PubMed

Genotype-phenotype association in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in children.
Ermakhanova T, Bazarbekova R, Svyatova G, Dossanova A
Clin Endocrinol (Oxf) 2023 May;98(5):654-661. Epub 2022 Dec 15 doi: 10.1111/cen.14859. PMID: 36494191
Congenital adrenal hyperplasia: issues in diagnosis and treatment in children.
Sharma R, Seth A
Indian J Pediatr 2014 Feb;81(2):178-85. Epub 2013 Nov 20 doi: 10.1007/s12098-013-1280-8. PMID: 24254335
Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment.
Carlson AD, Obeid JS, Kanellopoulou N, Wilson RC, New MI
J Steroid Biochem Mol Biol 1999 Apr-Jun;69(1-6):19-29. doi: 10.1016/s0960-0760(99)00059-x. PMID: 10418977

Recent clinical studies

Therapy

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
Congenital adrenal hyperplasia: issues in diagnosis and treatment in children.
Sharma R, Seth A
Indian J Pediatr 2014 Feb;81(2):178-85. Epub 2013 Nov 20 doi: 10.1007/s12098-013-1280-8. PMID: 24254335
Obesity among children and adolescents with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Völkl TM, Simm D, Beier C, Dörr HG
Pediatrics 2006 Jan;117(1):e98-105. doi: 10.1542/peds.2005-1005. PMID: 16396852
Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management.
Pinto G, Tardy V, Trivin C, Thalassinos C, Lortat-Jacob S, Nihoul-Fékété C, Morel Y, Brauner R
J Clin Endocrinol Metab 2003 Jun;88(6):2624-33. doi: 10.1210/jc.2002-021433. PMID: 12788866
Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment.
Carlson AD, Obeid JS, Kanellopoulou N, Wilson RC, New MI
J Steroid Biochem Mol Biol 1999 Apr-Jun;69(1-6):19-29. doi: 10.1016/s0960-0760(99)00059-x. PMID: 10418977

Prognosis

Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Saho R, Dolzan V, Zerjav Tansek M, Pastorakova A, Petrovic R, Knapkova M, Trebusak Podkrajsek K, Suput Omladic J, Bertok S, Avbelj Stefanija M, Kotnik P, Battelino T, Pribilincova Z, Groselj U
Front Endocrinol (Lausanne) 2023;14:1134133. Epub 2023 Mar 17 doi: 10.3389/fendo.2023.1134133. PMID: 37008950Free PMC Article
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
Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Espinosa Reyes TM, Collazo Mesa T, Lantigua Cruz PA, Agramonte Machado A, Domínguez Alonso E, Falhammar H
BMC Endocr Disord 2020 Nov 9;20(1):165. doi: 10.1186/s12902-020-00643-z. PMID: 33168061Free PMC Article
The Spectrum of Genetic Defects in Congenital Adrenal Hyperplasia in the Population of Cyprus: A Retrospective Analysis.
Neocleous V, Fanis P, Toumba M, Stylianou C, Picolos M, Andreou E, Kyriakou A, Iasonides M, Nicolaou S, Kyriakides TC, Tanteles GA, Skordis N, Phylactou LA
Horm Metab Res 2019 Sep;51(9):586-594. Epub 2019 Sep 10 doi: 10.1055/a-0957-3297. PMID: 31505704
Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment.
Carlson AD, Obeid JS, Kanellopoulou N, Wilson RC, New MI
J Steroid Biochem Mol Biol 1999 Apr-Jun;69(1-6):19-29. doi: 10.1016/s0960-0760(99)00059-x. PMID: 10418977

Clinical prediction guides

Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Concolino P, Perrucci A, Carrozza C, Urbani A
Mol Diagn Ther 2023 Sep;27(5):621-630. Epub 2023 Aug 7 doi: 10.1007/s40291-023-00666-x. PMID: 37548905
Genotype-phenotype association in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in children.
Ermakhanova T, Bazarbekova R, Svyatova G, Dossanova A
Clin Endocrinol (Oxf) 2023 May;98(5):654-661. Epub 2022 Dec 15 doi: 10.1111/cen.14859. PMID: 36494191
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
Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Espinosa Reyes TM, Collazo Mesa T, Lantigua Cruz PA, Agramonte Machado A, Domínguez Alonso E, Falhammar H
BMC Endocr Disord 2020 Nov 9;20(1):165. doi: 10.1186/s12902-020-00643-z. PMID: 33168061Free PMC Article
Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment.
Carlson AD, Obeid JS, Kanellopoulou N, Wilson RC, New MI
J Steroid Biochem Mol Biol 1999 Apr-Jun;69(1-6):19-29. doi: 10.1016/s0960-0760(99)00059-x. PMID: 10418977

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