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46,XY disorder of sex development due to impaired androgen production

MedGen UID:
1842338
•Concept ID:
C5679870
•
Disease or Syndrome
Synonym: 46,XY DSD due to impaired androgen production
 
Orphanet: ORPHA325357

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV46,XY disorder of sex development due to impaired androgen production

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

Diagnosis

A novel variant of the STAR gene: nonclassical presentation from Turkey.
Aytaç Kaplan EH, Gezdirici A, Kocabey Sütçü Z, Gökpinar İli E
J Pediatr Endocrinol Metab 2024 Sep 25;37(9):835-839. Epub 2024 Jul 24 doi: 10.1515/jpem-2024-0156. PMID: 39042921
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
46,XY DSD due to impaired androgen production.
Mendonca BB, Costa EM, Belgorosky A, Rivarola MA, Domenice S
Best Pract Res Clin Endocrinol Metab 2010 Apr;24(2):243-62. doi: 10.1016/j.beem.2009.11.003. PMID: 20541150
Single base mutations in the human androgen receptor gene causing complete androgen insensitivity: rapid detection by a modified denaturing gradient gel electrophoresis technique.
De Bellis A, Quigley CA, Cariello NF, el-Awady MK, Sar M, Lane MV, Wilson EM, French FS
Mol Endocrinol 1992 Nov;6(11):1909-20. doi: 10.1210/mend.6.11.1480178. PMID: 1480178

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
46,XY DSD due to impaired androgen production.
Mendonca BB, Costa EM, Belgorosky A, Rivarola MA, Domenice S
Best Pract Res Clin Endocrinol Metab 2010 Apr;24(2):243-62. doi: 10.1016/j.beem.2009.11.003. PMID: 20541150

Prognosis

A novel variant of the STAR gene: nonclassical presentation from Turkey.
Aytaç Kaplan EH, Gezdirici A, Kocabey Sütçü Z, Gökpinar İli E
J Pediatr Endocrinol Metab 2024 Sep 25;37(9):835-839. Epub 2024 Jul 24 doi: 10.1515/jpem-2024-0156. PMID: 39042921
Androgen resistance associated with a mutation of the androgen receptor at amino acid 772 (Arg----Cys) results from a combination of decreased messenger ribonucleic acid levels and impairment of receptor function.
Marcelli M, Tilley WD, Zoppi S, Griffin JE, Wilson JD, McPhaul MJ
J Clin Endocrinol Metab 1991 Aug;73(2):318-25. doi: 10.1210/jcem-73-2-318. PMID: 1856263

Clinical prediction guides

A novel variant of the STAR gene: nonclassical presentation from Turkey.
Aytaç Kaplan EH, Gezdirici A, Kocabey Sütçü Z, Gökpinar İli E
J Pediatr Endocrinol Metab 2024 Sep 25;37(9):835-839. Epub 2024 Jul 24 doi: 10.1515/jpem-2024-0156. PMID: 39042921
Single base mutations in the human androgen receptor gene causing complete androgen insensitivity: rapid detection by a modified denaturing gradient gel electrophoresis technique.
De Bellis A, Quigley CA, Cariello NF, el-Awady MK, Sar M, Lane MV, Wilson EM, French FS
Mol Endocrinol 1992 Nov;6(11):1909-20. doi: 10.1210/mend.6.11.1480178. PMID: 1480178
Androgen resistance associated with a mutation of the androgen receptor at amino acid 772 (Arg----Cys) results from a combination of decreased messenger ribonucleic acid levels and impairment of receptor function.
Marcelli M, Tilley WD, Zoppi S, Griffin JE, Wilson JD, McPhaul MJ
J Clin Endocrinol Metab 1991 Aug;73(2):318-25. doi: 10.1210/jcem-73-2-318. PMID: 1856263

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