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46,XY disorder of sex development

MedGen UID:
414114
Concept ID:
C2751824
Disease or Syndrome
Synonym: 46, XY disorder of sex development (DSD)
SNOMED CT: 46,XY disorder of sex development (880094008)
 
Monarch Initiative: MONDO:0020040
Orphanet: ORPHA98085

Definition

Differences of sex development in individuals with 46,XY karyotype. [from NCI]

Professional guidelines

PubMed

Altinkilic EM, Augsburger P, Pandey AV, Flück CE
J Endocrinol 2024 Sep 1;262(3) Epub 2024 Jul 18 doi: 10.1530/JOE-24-0078. PMID: 38913505
Alswailem MM, Alzahrani OS, Alghofaili L, Qasem E, Almohanaa M, Alsagheir A, Bin Abbas B, Attia NA, Al Shaikh A, Alzahrani AS
Endocrine 2019 Feb;63(2):361-368. Epub 2018 Sep 29 doi: 10.1007/s12020-018-1767-1. PMID: 30269266

Recent clinical studies

Etiology

Wisniewski AB, Batista RL, Costa EMF, Finlayson C, Sircili MHP, Dénes FT, Domenice S, Mendonca BB
Endocr Rev 2019 Dec 1;40(6):1547-1572. doi: 10.1210/er.2019-00049. PMID: 31365064
Alimussina M, Diver LA, McGowan R, Ahmed SF
Curr Opin Pediatr 2018 Aug;30(4):548-557. doi: 10.1097/MOP.0000000000000644. PMID: 29782383
Mendonca BB, Gomes NL, Costa EM, Inacio M, Martin RM, Nishi MY, Carvalho FM, Tibor FD, Domenice S
J Steroid Biochem Mol Biol 2017 Jan;165(Pt A):79-85. Epub 2016 May 6 doi: 10.1016/j.jsbmb.2016.05.002. PMID: 27163392
Mendonca BB, Batista RL, Domenice S, Costa EM, Arnhold IJ, Russell DW, Wilson JD
J Steroid Biochem Mol Biol 2016 Oct;163:206-11. Epub 2016 May 22 doi: 10.1016/j.jsbmb.2016.05.020. PMID: 27224879
Palmer BW, Wisniewski AB, Schaeffer TL, Mallappa A, Tryggestad JB, Krishnan S, Chalmers LJ, Copeland K, Chernausek SD, Reiner WG, Kropp BP
J Pediatr Urol 2012 Feb;8(1):7-16. Epub 2011 Nov 9 doi: 10.1016/j.jpurol.2011.08.013. PMID: 22078657

Diagnosis

Reyes AP, León NY, Frost ER, Harley VR
Nat Rev Urol 2023 Jul;20(7):434-451. Epub 2023 Apr 5 doi: 10.1038/s41585-023-00754-x. PMID: 37020056
Babu R, Shah U
J Pediatr Urol 2021 Feb;17(1):39-47. Epub 2020 Nov 12 doi: 10.1016/j.jpurol.2020.11.017. PMID: 33246831
Wisniewski AB, Batista RL, Costa EMF, Finlayson C, Sircili MHP, Dénes FT, Domenice S, Mendonca BB
Endocr Rev 2019 Dec 1;40(6):1547-1572. doi: 10.1210/er.2019-00049. PMID: 31365064
Alimussina M, Diver LA, McGowan R, Ahmed SF
Curr Opin Pediatr 2018 Aug;30(4):548-557. doi: 10.1097/MOP.0000000000000644. PMID: 29782383
Massanyi EZ, Dicarlo HN, Migeon CJ, Gearhart JP
J Pediatr Urol 2013 Jun;9(3):368-79. Epub 2012 Dec 29 doi: 10.1016/j.jpurol.2012.12.002. PMID: 23276787

Therapy

Levy B, Teplitsky S, Kalaitzoglou E, Kahler S, Matheny JP, Saltzman AF
Urology 2023 Aug;178:147-150. Epub 2023 May 11 doi: 10.1016/j.urology.2023.05.001. PMID: 37178876
Stancampiano MR, Lucas-Herald AK, Bryce J, Russo G, Barera G, Balsamo A, Baronio F, Bertelloni S, Valiani M, Cools M, Tack LJW, Darendeliler F, Poyrazoglu S, Globa E, Grinspon R, Hannema SE, Hughes IA, Tadokoro-Cuccaro R, Thankamony A, Iotova V, Mladenov V, Konrad D, Mazen I, Niedziela M, Kolesinska Z, Nordenström A, Ahmed SF
Sex Dev 2021;15(4):236-243. Epub 2021 Jul 7 doi: 10.1159/000516784. PMID: 34350903
Loch Batista R, Inácio M, Prado Arnhold IJ, Gomes NL, Diniz Faria JA, Rodrigues de Moraes D, Frade Costa EM, Domenice S, Bilharinho Mendonça B
J Clin Endocrinol Metab 2019 Apr 1;104(4):1160-1170. doi: 10.1210/jc.2018-01866. PMID: 30388241
Fu XH, Zhang WQ, Qu XS
Genet Mol Res 2016 Mar 31;15(1):15018232. doi: 10.4238/gmr.15018232. PMID: 27051040
Kenney LB, Duffey-Lind E, Ebb D, Sklar CA, Grier H, Diller L
J Pediatr Hematol Oncol 2014 Apr;36(3):237-40. doi: 10.1097/MPH.0b013e3182a27c39. PMID: 24667129

Prognosis

Kouri C, Sommer G, Flück CE
Horm Res Paediatr 2023;96(2):169-179. Epub 2021 Sep 17 doi: 10.1159/000519691. PMID: 34537773
Bielińska E, Matiakowska K, Haus O
Postepy Hig Med Dosw (Online) 2017 Jul 11;71(0):595-601. doi: 10.5604/01.3001.0010.3840. PMID: 28791954
Esplin ED, Chaib H, Haney M, Martin B, Homeyer M, Urban AE, Bernstein JA
Am J Med Genet A 2015 Jun;167(6):1360-4. Epub 2015 Apr 21 doi: 10.1002/ajmg.a.37037. PMID: 25898814Free PMC Article
Ogata T, Sano S, Nagata E, Kato F, Fukami M
Semin Reprod Med 2012 Oct;30(5):410-6. Epub 2012 Oct 8 doi: 10.1055/s-0032-1324725. PMID: 23044878
Palmer BW, Wisniewski AB, Schaeffer TL, Mallappa A, Tryggestad JB, Krishnan S, Chalmers LJ, Copeland K, Chernausek SD, Reiner WG, Kropp BP
J Pediatr Urol 2012 Feb;8(1):7-16. Epub 2011 Nov 9 doi: 10.1016/j.jpurol.2011.08.013. PMID: 22078657

Clinical prediction guides

Kouri C, Sommer G, Flück CE
Horm Res Paediatr 2023;96(2):169-179. Epub 2021 Sep 17 doi: 10.1159/000519691. PMID: 34537773
Avendaño A, Paradisi I, Cammarata-Scalisi F, Callea M
Hormones (Athens) 2018 Jun;17(2):197-204. Epub 2018 Apr 20 doi: 10.1007/s42000-018-0013-9. PMID: 29858846
Bielińska E, Matiakowska K, Haus O
Postepy Hig Med Dosw (Online) 2017 Jul 11;71(0):595-601. doi: 10.5604/01.3001.0010.3840. PMID: 28791954
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
Ogata T, Sano S, Nagata E, Kato F, Fukami M
Semin Reprod Med 2012 Oct;30(5):410-6. Epub 2012 Oct 8 doi: 10.1055/s-0032-1324725. PMID: 23044878

Recent systematic reviews

Krishnappa B, Arya S, Lila AR, Sarathi V, Memon SS, Barnabas R, Kumbhar BV, Bhandare VV, Patil V, Shah NS, Kunwar A, Bandgar T
Clin Endocrinol (Oxf) 2022 Jul;97(1):43-51. Epub 2022 Feb 27 doi: 10.1111/cen.14694. PMID: 35170787
Kanakatti Shankar R, Dowlut-McElroy T, Dauber A, Gomez-Lobo V
J Clin Endocrinol Metab 2022 Jan 18;107(2):309-323. doi: 10.1210/clinem/dgab687. PMID: 34537849Free PMC Article
Babu R, Shah U
J Pediatr Urol 2021 Feb;17(1):39-47. Epub 2020 Nov 12 doi: 10.1016/j.jpurol.2020.11.017. PMID: 33246831
Godfrey LM
J Health Psychol 2021 Jan;26(1):40-59. Epub 2020 Mar 5 doi: 10.1177/1359105320909863. PMID: 32133887
Yang Z, Ye L, Wang W, Zhao Y, Wang W, Jia H, Dong Z, Chen Y, Wang W, Ning G, Sun S
J Steroid Biochem Mol Biol 2017 Nov;174:141-145. Epub 2017 Aug 25 doi: 10.1016/j.jsbmb.2017.08.012. PMID: 28847746

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