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

MedGen UID:
1842268
•Concept ID:
C5680186
•
Disease or Syndrome
Synonym: 46,XY DSD due to testicular steroidogenesis defect
 
Orphanet: ORPHA90787

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV46,XY disorder of sex development due to testicular steroidogenesis defect

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
Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study.
Philibert P, Zenaty D, Lin L, Soskin S, Audran F, Léger J, Achermann JC, Sultan C
Hum Reprod 2007 Dec;22(12):3255-61. Epub 2007 Oct 16 doi: 10.1093/humrep/dem278. PMID: 17940071Free PMC Article

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
Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study.
Philibert P, Zenaty D, Lin L, Soskin S, Audran F, Léger J, Achermann JC, Sultan C
Hum Reprod 2007 Dec;22(12):3255-61. Epub 2007 Oct 16 doi: 10.1093/humrep/dem278. PMID: 17940071Free PMC Article

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

Clinical prediction guides

Defects in androgen biosynthesis causing 46,XY disorders of sexual development.
Auchus RJ, Miller WL
Semin Reprod Med 2012 Oct;30(5):417-26. Epub 2012 Oct 8 doi: 10.1055/s-0032-1324726. PMID: 23044879

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