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Simple Virilizing 21-Hydroxylase Deficiency

MedGen UID:
1388701
•Concept ID:
C3838669
•
Disease or Syndrome

Definition

A classic form of congenital adrenal hyperplasia that is characterized by severe 21-hydroxylase deficiency, resulting in glucocorticoid and mineralocorticoid deficiency, but without clinically significant salt wasting, and with androgen excess, which causes virilization in female infants. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSimple Virilizing 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

Recent clinical studies

Etiology

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
Metabolic disorders in newly diagnosed young adult female patients with simple virilizing 21-hydroxylase deficiency.
Zhang HJ, Yang J, Zhang MN, Liu CQ, Xu M, Li XJ, Yang SY, Li XY
Endocrine 2010 Oct;38(2):260-5. Epub 2010 Oct 27 doi: 10.1007/s12020-010-9382-9. PMID: 20978868

Diagnosis

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
Postnatal virilization mimicking 21-hydroxylase deficiency in 3 very premature infants.
Couch R, Girgis R
Pediatrics 2012 May;129(5):e1364-7. Epub 2012 Apr 2 doi: 10.1542/peds.2011-1895. PMID: 22473363
Metabolic disorders in newly diagnosed young adult female patients with simple virilizing 21-hydroxylase deficiency.
Zhang HJ, Yang J, Zhang MN, Liu CQ, Xu M, Li XJ, Yang SY, Li XY
Endocrine 2010 Oct;38(2):260-5. Epub 2010 Oct 27 doi: 10.1007/s12020-010-9382-9. PMID: 20978868
CNS germinoma in a boy with simple virilizing 21-hydroxylase deficiency and precocious puberty.
Bajpai A, Singhal T, Kabra M, Menon PS
J Pediatr Endocrinol Metab 2002 Mar;15(3):335-7. doi: 10.1515/jpem.2002.15.3.335. PMID: 11926207
False negatives at neonatal screening for congenital adrenal hyperplasia in two siblings with 21-hydroxylase deficiency.
Shinohara O, Ishiguro H, Shinagawa T, Kubota C
Endocr J 1998 Jun;45(3):427-30. doi: 10.1507/endocrj.45.427. PMID: 9790280

Therapy

CNS germinoma in a boy with simple virilizing 21-hydroxylase deficiency and precocious puberty.
Bajpai A, Singhal T, Kabra M, Menon PS
J Pediatr Endocrinol Metab 2002 Mar;15(3):335-7. doi: 10.1515/jpem.2002.15.3.335. PMID: 11926207

Prognosis

CNS germinoma in a boy with simple virilizing 21-hydroxylase deficiency and precocious puberty.
Bajpai A, Singhal T, Kabra M, Menon PS
J Pediatr Endocrinol Metab 2002 Mar;15(3):335-7. doi: 10.1515/jpem.2002.15.3.335. PMID: 11926207
False negatives at neonatal screening for congenital adrenal hyperplasia in two siblings with 21-hydroxylase deficiency.
Shinohara O, Ishiguro H, Shinagawa T, Kubota C
Endocr J 1998 Jun;45(3):427-30. doi: 10.1507/endocrj.45.427. PMID: 9790280

Clinical prediction guides

Metabolic disorders in newly diagnosed young adult female patients with simple virilizing 21-hydroxylase deficiency.
Zhang HJ, Yang J, Zhang MN, Liu CQ, Xu M, Li XJ, Yang SY, Li XY
Endocrine 2010 Oct;38(2):260-5. Epub 2010 Oct 27 doi: 10.1007/s12020-010-9382-9. PMID: 20978868
False negatives at neonatal screening for congenital adrenal hyperplasia in two siblings with 21-hydroxylase deficiency.
Shinohara O, Ishiguro H, Shinagawa T, Kubota C
Endocr J 1998 Jun;45(3):427-30. doi: 10.1507/endocrj.45.427. PMID: 9790280

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