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Mild steroid 21-hydroxylase deficiency

MedGen UID:
541267
•Concept ID:
C0268288
•
Disease or Syndrome
SNOMED CT: Mild steroid 21-hydroxylase deficiency (45235005)

Professional guidelines

PubMed

Novel insight into etiology, diagnosis and management of primary adrenal insufficiency.
Malikova J, Flück CE
Horm Res Paediatr 2014;82(3):145-57. Epub 2014 Aug 1 doi: 10.1159/000363107. PMID: 25096886
Association between genotype, clinical presentation, and severity of congenital adrenal hyperplasia: a review.
Al-Agha AE, Ocheltree AH, Al-Tamimi MD
Turk J Pediatr 2012 Jul-Aug;54(4):323-32. PMID: 23692712
Congenital adrenal hyperplasia in adolescents: diagnosis and management.
Lin-Su K, Nimkarn S, New MI
Ann N Y Acad Sci 2008;1135:95-8. doi: 10.1196/annals.1429.021. PMID: 18574213

Recent clinical studies

Prognosis

Haplotypes of the steroid 21-hydroxylase gene region encoding mild steroid 21-hydroxylase deficiency.
Haglund-Stengler B, Martin Ritzén E, Gustafsson J, Luthman H
Proc Natl Acad Sci U S A 1991 Oct 1;88(19):8352-6. doi: 10.1073/pnas.88.19.8352. PMID: 1924294Free PMC Article

Clinical prediction guides

Haplotypes of the steroid 21-hydroxylase gene region encoding mild steroid 21-hydroxylase deficiency.
Haglund-Stengler B, Martin Ritzén E, Gustafsson J, Luthman H
Proc Natl Acad Sci U S A 1991 Oct 1;88(19):8352-6. doi: 10.1073/pnas.88.19.8352. PMID: 1924294Free PMC Article

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