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46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect

MedGen UID:
1843061
•Concept ID:
C5680187
•
Disease or Syndrome
Synonym: 46,XY DSD due to adrenal and testicular steroidogenesis defect
 
Orphanet: ORPHA90786

Recent clinical studies

Etiology

Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
Idkowiak J, O'Riordan S, Reisch N, Malunowicz EM, Collins F, Kerstens MN, Köhler B, Graul-Neumann LM, Szarras-Czapnik M, Dattani M, Silink M, Shackleton CH, Maiter D, Krone N, Arlt W
J Clin Endocrinol Metab 2011 Mar;96(3):E453-62. Epub 2010 Dec 29 doi: 10.1210/jc.2010-1607. PMID: 21190981Free PMC Article
Update--steroidogenic factor 1 (SF-1, NR5A1).
Köhler B, Achermann JC
Minerva Endocrinol 2010 Jun;35(2):73-86. PMID: 20595937

Diagnosis

Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
Idkowiak J, O'Riordan S, Reisch N, Malunowicz EM, Collins F, Kerstens MN, Köhler B, Graul-Neumann LM, Szarras-Czapnik M, Dattani M, Silink M, Shackleton CH, Maiter D, Krone N, Arlt W
J Clin Endocrinol Metab 2011 Mar;96(3):E453-62. Epub 2010 Dec 29 doi: 10.1210/jc.2010-1607. PMID: 21190981Free PMC Article
Update--steroidogenic factor 1 (SF-1, NR5A1).
Köhler B, Achermann JC
Minerva Endocrinol 2010 Jun;35(2):73-86. PMID: 20595937

Therapy

Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
Idkowiak J, O'Riordan S, Reisch N, Malunowicz EM, Collins F, Kerstens MN, Köhler B, Graul-Neumann LM, Szarras-Czapnik M, Dattani M, Silink M, Shackleton CH, Maiter D, Krone N, Arlt W
J Clin Endocrinol Metab 2011 Mar;96(3):E453-62. Epub 2010 Dec 29 doi: 10.1210/jc.2010-1607. PMID: 21190981Free PMC Article

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