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46,XY disorder of sex development of endocrine origin

MedGen UID:
1842509
Concept ID:
C5679872
Disease or Syndrome
Synonym: 46,XY DSD of endocrine origin
 
Orphanet: ORPHA325351

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV46,XY disorder of sex development of endocrine origin

Recent clinical studies

Etiology

Looijenga LHJ, Kao CS, Idrees MT
Int J Mol Sci 2019 Oct 10;20(20) doi: 10.3390/ijms20205017. PMID: 31658757Free PMC Article
Kotan LD, Hutchins BI, Ozkan Y, Demirel F, Stoner H, Cheng PJ, Esen I, Gurbuz F, Bicakci YK, Mengen E, Yuksel B, Wray S, Topaloglu AK
Am J Hum Genet 2014 Sep 4;95(3):326-31. doi: 10.1016/j.ajhg.2014.08.006. PMID: 25192046Free PMC Article
Lourenço D, Brauner R, Rybczynska M, Nihoul-Fékété C, McElreavey K, Bashamboo A
Proc Natl Acad Sci U S A 2011 Jan 25;108(4):1597-602. Epub 2011 Jan 10 doi: 10.1073/pnas.1010257108. PMID: 21220346Free PMC Article
Henegariu O, Pescovitz OH, Vance GH, Verbrugge J, Heerema NA
Am J Med Genet 1997 Sep 5;71(4):426-9. PMID: 9286449
Opitz JM, Pallister PD
Am J Med Genet 1979;4(4):333-43. doi: 10.1002/ajmg.1320040404. PMID: 395846

Diagnosis

Cheng D, Lu CF, Gong F, Du J, Yuan S, Luo KL, Tan YQ, Lu GX, Lin G
Hum Reprod 2024 Apr 3;39(4):849-855. doi: 10.1093/humrep/deae026. PMID: 38420683
Nixon B, Cafe SL, Eamens AL, De Iuliis GN, Bromfield EG, Martin JH, Skerrett-Byrne DA, Dun MD
Mol Cell Endocrinol 2020 Nov 1;517:110955. Epub 2020 Aug 9 doi: 10.1016/j.mce.2020.110955. PMID: 32783903
Looijenga LHJ, Kao CS, Idrees MT
Int J Mol Sci 2019 Oct 10;20(20) doi: 10.3390/ijms20205017. PMID: 31658757Free PMC Article
ALvarez-Nava F, Soto M, Sánchez MA, Fernández E, Lanes R
J Pediatr 2003 Mar;142(3):336-40. doi: 10.1067/mpd.2003.95. PMID: 12640385
Stuchi-Perez EG, Lukas-Croisier C, De Castro M, Baptista MT, Ribeiro Scolfaro M, Marques-De-Faria AP, Hackel C, Maciel-Guerra AT, Guerra Júnior G
J Pediatr Endocrinol Metab 2000 Jun;13(6):605-12. doi: 10.1515/jpem.2000.13.6.605. PMID: 10905384

Therapy

Raivio T, Avbelj M, McCabe MJ, Romero CJ, Dwyer AA, Tommiska J, Sykiotis GP, Gregory LC, Diaczok D, Tziaferi V, Elting MW, Padidela R, Plummer L, Martin C, Feng B, Zhang C, Zhou QY, Chen H, Mohammadi M, Quinton R, Sidis Y, Radovick S, Dattani MT, Pitteloud N
J Clin Endocrinol Metab 2012 Apr;97(4):E694-9. Epub 2012 Feb 8 doi: 10.1210/jc.2011-2938. PMID: 22319038Free PMC Article
Ulfelder H, Robboy SJ
Am J Obstet Gynecol 1976 Dec 1;126(7):769-76. doi: 10.1016/0002-9378(76)90666-9. PMID: 1033667
Smith SR
J Clin Endocrinol Metab 1971 Jan;32(1):77-82. doi: 10.1210/jcem-32-1-77. PMID: 4321498

Prognosis

Looijenga LHJ, Kao CS, Idrees MT
Int J Mol Sci 2019 Oct 10;20(20) doi: 10.3390/ijms20205017. PMID: 31658757Free PMC Article
Winge SB, Dalgaard MD, Belling KG, Jensen JM, Nielsen JE, Aksglaede L, Schierup MH, Brunak S, Skakkebæk NE, Juul A, Rajpert-De Meyts E, Almstrup K
Cell Death Dis 2018 May 22;9(6):586. doi: 10.1038/s41419-018-0671-1. PMID: 29789566Free PMC Article
Raivio T, Avbelj M, McCabe MJ, Romero CJ, Dwyer AA, Tommiska J, Sykiotis GP, Gregory LC, Diaczok D, Tziaferi V, Elting MW, Padidela R, Plummer L, Martin C, Feng B, Zhang C, Zhou QY, Chen H, Mohammadi M, Quinton R, Sidis Y, Radovick S, Dattani MT, Pitteloud N
J Clin Endocrinol Metab 2012 Apr;97(4):E694-9. Epub 2012 Feb 8 doi: 10.1210/jc.2011-2938. PMID: 22319038Free PMC Article
Lourenço D, Brauner R, Rybczynska M, Nihoul-Fékété C, McElreavey K, Bashamboo A
Proc Natl Acad Sci U S A 2011 Jan 25;108(4):1597-602. Epub 2011 Jan 10 doi: 10.1073/pnas.1010257108. PMID: 21220346Free PMC Article
Ulfelder H, Robboy SJ
Am J Obstet Gynecol 1976 Dec 1;126(7):769-76. doi: 10.1016/0002-9378(76)90666-9. PMID: 1033667

Clinical prediction guides

Livermore C, Simon M, Reeves R, Stévant I, Nef S, Pope M, Mallon AM, Wells S, Warr N, Greenfield A
Genetics 2020 Feb;214(2):467-477. Epub 2019 Dec 13 doi: 10.1534/genetics.119.302786. PMID: 31836612Free PMC Article
Looijenga LHJ, Kao CS, Idrees MT
Int J Mol Sci 2019 Oct 10;20(20) doi: 10.3390/ijms20205017. PMID: 31658757Free PMC Article
Winge SB, Dalgaard MD, Belling KG, Jensen JM, Nielsen JE, Aksglaede L, Schierup MH, Brunak S, Skakkebæk NE, Juul A, Rajpert-De Meyts E, Almstrup K
Cell Death Dis 2018 May 22;9(6):586. doi: 10.1038/s41419-018-0671-1. PMID: 29789566Free PMC Article
van Bever Y, Wolffenbuttel KP, Brüggenwirth HT, Blom E, de Klein A, Eussen BHJ, van der Windt F, Hannema SE, Dessens AB, Dorssers LCJ, Biermann K, Hersmus R, de Rijke YB, Looijenga LHJ
Sex Dev 2018;12(1-3):145-154. Epub 2017 Sep 20 doi: 10.1159/000479946. PMID: 28926831Free PMC Article
Shammas C, Neocleous V, Toumba M, Costi C, Phedonos AA, Efstathiou E, Kyriakou A, Phylactou LA, Skordis N
Genet Test Mol Biomarkers 2012 Sep;16(9):1073-9. Epub 2012 Aug 2 doi: 10.1089/gtmb.2011.0381. PMID: 22857144

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