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Salt-Wasting 21-Hydroxylase Deficiency

MedGen UID:
1392898
•Concept ID:
C4331270
•
Disease or Syndrome
Synonym: Salt-wasting 21-OHD

Definition

A classic form of congenital adrenal hyperplasia characterized by complete absence of 21-hydroxylase activity resulting in deficiency of glucocorticoids and mineralocorticoids accompanied by androgen excess causing virilization in female infants. Mineralocorticoid deficiency results in renal salt-wasting, and if untreated, hyponatremia, hyperkalemia, and shock. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSalt-Wasting 21-Hydroxylase Deficiency

Professional guidelines

PubMed

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
Growth inhibition by glucocorticoid treatment in salt wasting 21-hydroxylase deficiency: in early infancy and (pre)puberty.
Stikkelbroeck NM, Van't Hof-Grootenboer BA, Hermus AR, Otten BJ, Van't Hof MA
J Clin Endocrinol Metab 2003 Aug;88(8):3525-30. doi: 10.1210/jc.2002-030011. PMID: 12915631

Recent clinical studies

Etiology

Mineralocorticoid replacement during infancy for salt wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Gomes LG, Madureira G, Mendonca BB, Bachega TA
Clinics (Sao Paulo) 2013;68(2):147-52. doi: 10.6061/clinics/2013(02)oa05. PMID: 23525308Free PMC Article
Normalization of height and excess body fat in children with salt-wasting 21-hydroxylase deficiency.
Mendes-Dos-Santos CT, Lemos-Marini SH, Baptista MT, Guerra-Junior G, De-Mello MP, Paulino MF, Morcillo AM
J Pediatr (Rio J) 2011 May-Jun 8;87(3):263-8. doi: 10.2223/JPED.2095. PMID: 21660369
Severity of virilization of external genitalia in Japanese patients with salt-wasting 21-hydroxylase deficiency.
Sugiyama Y, Mizuno H, Hayashi Y, Imamine H, Ito T, Kato I, Yamamoto-Tomita M, Aoyama M, Asai K, Togari H
Tohoku J Exp Med 2008 Aug;215(4):341-8. doi: 10.1620/tjem.215.341. PMID: 18679008
Growth inhibition by glucocorticoid treatment in salt wasting 21-hydroxylase deficiency: in early infancy and (pre)puberty.
Stikkelbroeck NM, Van't Hof-Grootenboer BA, Hermus AR, Otten BJ, Van't Hof MA
J Clin Endocrinol Metab 2003 Aug;88(8):3525-30. doi: 10.1210/jc.2002-030011. PMID: 12915631
Presentation, acute illness, and learning difficulties in salt wasting 21-hydroxylase deficiency.
Donaldson MD, Thomas PH, Love JG, Murray GD, McNinch AW, Savage DC
Arch Dis Child 1994 Mar;70(3):214-8. doi: 10.1136/adc.70.3.214. PMID: 8135566Free PMC Article

Diagnosis

Vaginal bleeding and a giant ovarian cyst in an infant with 21-hydroxylase deficiency.
Şahin NM, Bayramoğlu E, Çetinkaya S, Erdeve ŞŞ, Karaman A, Akdoğan MP, Aycan Z
J Pediatr Endocrinol Metab 2018 Jan 26;31(2):229-233. doi: 10.1515/jpem-2017-0235. PMID: 29252197
Mineralocorticoid replacement during infancy for salt wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Gomes LG, Madureira G, Mendonca BB, Bachega TA
Clinics (Sao Paulo) 2013;68(2):147-52. doi: 10.6061/clinics/2013(02)oa05. PMID: 23525308Free PMC Article
Growth inhibition by glucocorticoid treatment in salt wasting 21-hydroxylase deficiency: in early infancy and (pre)puberty.
Stikkelbroeck NM, Van't Hof-Grootenboer BA, Hermus AR, Otten BJ, Van't Hof MA
J Clin Endocrinol Metab 2003 Aug;88(8):3525-30. doi: 10.1210/jc.2002-030011. PMID: 12915631
Presentation, acute illness, and learning difficulties in salt wasting 21-hydroxylase deficiency.
Donaldson MD, Thomas PH, Love JG, Murray GD, McNinch AW, Savage DC
Arch Dis Child 1994 Mar;70(3):214-8. doi: 10.1136/adc.70.3.214. PMID: 8135566Free PMC Article
Aldosterone synthesis in salt-wasting congenital adrenal hyperplasia with complete absence of adrenal 21-hydroxylase.
Speiser PW, Agdere L, Ueshiba H, White PC, New MI
N Engl J Med 1991 Jan 17;324(3):145-9. doi: 10.1056/NEJM199101173240302. PMID: 1984191

Therapy

Vaginal bleeding and a giant ovarian cyst in an infant with 21-hydroxylase deficiency.
Şahin NM, Bayramoğlu E, Çetinkaya S, Erdeve ŞŞ, Karaman A, Akdoğan MP, Aycan Z
J Pediatr Endocrinol Metab 2018 Jan 26;31(2):229-233. doi: 10.1515/jpem-2017-0235. PMID: 29252197
Mineralocorticoid replacement during infancy for salt wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Gomes LG, Madureira G, Mendonca BB, Bachega TA
Clinics (Sao Paulo) 2013;68(2):147-52. doi: 10.6061/clinics/2013(02)oa05. PMID: 23525308Free PMC Article
Normalization of height and excess body fat in children with salt-wasting 21-hydroxylase deficiency.
Mendes-Dos-Santos CT, Lemos-Marini SH, Baptista MT, Guerra-Junior G, De-Mello MP, Paulino MF, Morcillo AM
J Pediatr (Rio J) 2011 May-Jun 8;87(3):263-8. doi: 10.2223/JPED.2095. PMID: 21660369
Growth inhibition by glucocorticoid treatment in salt wasting 21-hydroxylase deficiency: in early infancy and (pre)puberty.
Stikkelbroeck NM, Van't Hof-Grootenboer BA, Hermus AR, Otten BJ, Van't Hof MA
J Clin Endocrinol Metab 2003 Aug;88(8):3525-30. doi: 10.1210/jc.2002-030011. PMID: 12915631
Blood pressure in children and adolescents with congenital adrenal hyperplasia (21-hydroxylase deficiency): a preliminary report.
Roche EF, Charmandari E, Dattani MT, Hindmarsh PC
Clin Endocrinol (Oxf) 2003 May;58(5):589-96. doi: 10.1046/j.1365-2265.2003.01757.x. PMID: 12699440

Prognosis

Aldosterone synthesis in salt-wasting congenital adrenal hyperplasia with complete absence of adrenal 21-hydroxylase.
Speiser PW, Agdere L, Ueshiba H, White PC, New MI
N Engl J Med 1991 Jan 17;324(3):145-9. doi: 10.1056/NEJM199101173240302. PMID: 1984191

Clinical prediction guides

False elevation of serum cortisol in chemiluminescence immunoassay by Siemens Advia Centaur XP system in 21-hydroxylase deficiency: an 'endocrine laboma'.
Agrawal N, Chakraborty PP, Sinha A, Maiti A
BMJ Case Rep 2020 Sep 7;13(9) doi: 10.1136/bcr-2020-235450. PMID: 32900728Free PMC Article
Normalization of height and excess body fat in children with salt-wasting 21-hydroxylase deficiency.
Mendes-Dos-Santos CT, Lemos-Marini SH, Baptista MT, Guerra-Junior G, De-Mello MP, Paulino MF, Morcillo AM
J Pediatr (Rio J) 2011 May-Jun 8;87(3):263-8. doi: 10.2223/JPED.2095. PMID: 21660369
Growth inhibition by glucocorticoid treatment in salt wasting 21-hydroxylase deficiency: in early infancy and (pre)puberty.
Stikkelbroeck NM, Van't Hof-Grootenboer BA, Hermus AR, Otten BJ, Van't Hof MA
J Clin Endocrinol Metab 2003 Aug;88(8):3525-30. doi: 10.1210/jc.2002-030011. PMID: 12915631
Blood pressure in children and adolescents with congenital adrenal hyperplasia (21-hydroxylase deficiency): a preliminary report.
Roche EF, Charmandari E, Dattani MT, Hindmarsh PC
Clin Endocrinol (Oxf) 2003 May;58(5):589-96. doi: 10.1046/j.1365-2265.2003.01757.x. PMID: 12699440
Aldosterone synthesis in salt-wasting congenital adrenal hyperplasia with complete absence of adrenal 21-hydroxylase.
Speiser PW, Agdere L, Ueshiba H, White PC, New MI
N Engl J Med 1991 Jan 17;324(3):145-9. doi: 10.1056/NEJM199101173240302. PMID: 1984191

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