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Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form

MedGen UID:
1826062
•Concept ID:
C5679896
•
Disease or Syndrome
Synonyms: Classic 21-OHD CAH, salt wasting form; classic 21-OHD CAH, salt wasting form; classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting 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:0017839
Orphanet: ORPHA315306

Definition

A form of classic 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 salt-wasting due to aldosterone deficiency, accelerated growth velocity and bone maturation, premature adrenarche and precocious puberty leading to reduced adult height. [from ORDO]

Term Hierarchy

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

Professional guidelines

PubMed

The prevalence and genotype of 21-hydroxylase deficiency in the Croatian Romani population.
Dumic KK, Grubic Z, Kusec V, Braovac D, Gotovac K, Vinkovic M, Vucinic M, Dumic M
Front Endocrinol (Lausanne) 2023;14:1170449. Epub 2023 May 31 doi: 10.3389/fendo.2023.1170449. PMID: 37324261Free PMC Article
Molecular Analysis of 21-Hydroxylase Deficiency Reveals Two Novel Severe Genotypes in Affected Newborns.
Concolino P, Paragliola RM
Mol Diagn Ther 2021 May;25(3):327-337. Epub 2021 Mar 12 doi: 10.1007/s40291-021-00520-y. PMID: 33710594
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

Recent clinical studies

Etiology

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
POR polymorphisms are associated with 21 hydroxylase deficiency.
Pecori Giraldi F, Einaudi S, Sesta A, Verna F, Messina M, Manieri C, Menegatti E, Ghizzoni L
J Endocrinol Invest 2021 Oct;44(10):2219-2226. Epub 2021 Mar 5 doi: 10.1007/s40618-021-01527-2. PMID: 33666875Free PMC Article
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: 30056407Free 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

Diagnosis

POR polymorphisms are associated with 21 hydroxylase deficiency.
Pecori Giraldi F, Einaudi S, Sesta A, Verna F, Messina M, Manieri C, Menegatti E, Ghizzoni L
J Endocrinol Invest 2021 Oct;44(10):2219-2226. Epub 2021 Mar 5 doi: 10.1007/s40618-021-01527-2. PMID: 33666875Free PMC Article
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: 30056407Free PMC Article
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 due to 21 hydroxylase deficiency: from birth to adulthood.
White PC, Bachega TA
Semin Reprod Med 2012 Oct;30(5):400-9. Epub 2012 Oct 8 doi: 10.1055/s-0032-1324724. PMID: 23044877
Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Forest MG
Hum Reprod Update 2004 Nov-Dec;10(6):469-85. doi: 10.1093/humupd/dmh047. PMID: 15514016

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
Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Forest MG
Hum Reprod Update 2004 Nov-Dec;10(6):469-85. doi: 10.1093/humupd/dmh047. PMID: 15514016
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

POR polymorphisms are associated with 21 hydroxylase deficiency.
Pecori Giraldi F, Einaudi S, Sesta A, Verna F, Messina M, Manieri C, Menegatti E, Ghizzoni L
J Endocrinol Invest 2021 Oct;44(10):2219-2226. Epub 2021 Mar 5 doi: 10.1007/s40618-021-01527-2. PMID: 33666875Free 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
Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Forest MG
Hum Reprod Update 2004 Nov-Dec;10(6):469-85. doi: 10.1093/humupd/dmh047. PMID: 15514016
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 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
Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Forest MG
Hum Reprod Update 2004 Nov-Dec;10(6):469-85. doi: 10.1093/humupd/dmh047. PMID: 15514016
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 systematic reviews

Mutation distributions among patients with congenital adrenal hyperplasia from five regions of Brazil: a systematic review.
Hosomi SS, Salles IC, Bachega TASS
Arch Endocrinol Metab 2023 Mar 30;67(3):427-441. doi: 10.20945/2359-3997000000593. PMID: 37011374Free PMC Article

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