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46,XY disorder of gonadal development

MedGen UID:
1842543
Concept ID:
C5680949
Disease or Syndrome
Orphanet: ORPHA325118

Professional guidelines

PubMed

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
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
Lee PA, Houk CP, Ahmed SF, Hughes IA; International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology
Pediatrics 2006 Aug;118(2):e488-500. doi: 10.1542/peds.2006-0738. PMID: 16882788

Recent clinical studies

Etiology

Nowotny HF, Reisch N
Horm Res Paediatr 2023;96(2):207-221. Epub 2022 Dec 6 doi: 10.1159/000527433. PMID: 36473446
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
Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH
Genome Biol 2016 Nov 29;17(1):243. doi: 10.1186/s13059-016-1105-y. PMID: 27899157Free PMC Article
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337
Hughes IA, Werner R, Bunch T, Hiort O
Semin Reprod Med 2012 Oct;30(5):432-42. Epub 2012 Oct 8 doi: 10.1055/s-0032-1324728. PMID: 23044881

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
Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH
Genome Biol 2016 Nov 29;17(1):243. doi: 10.1186/s13059-016-1105-y. PMID: 27899157Free PMC Article
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337
Hughes IA, Werner R, Bunch T, Hiort O
Semin Reprod Med 2012 Oct;30(5):432-42. Epub 2012 Oct 8 doi: 10.1055/s-0032-1324728. PMID: 23044881

Therapy

Sharma KR, Sharma H, Vishnoi J, Sharma RK, Goel S
J Assoc Physicians India 2022 Apr;70(4):11-12. PMID: 35443335
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337
Hiort O
Ann Endocrinol (Paris) 2014 May;75(2):64-6. Epub 2014 Apr 17 doi: 10.1016/j.ando.2014.03.008. PMID: 24746403
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
Lee PA, Houk CP, Ahmed SF, Hughes IA; International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology
Pediatrics 2006 Aug;118(2):e488-500. doi: 10.1542/peds.2006-0738. PMID: 16882788

Prognosis

McElreavey K, Pailhoux E, Bashamboo A
Sex Dev 2022;16(2-3):194-206. Epub 2022 Jul 14 doi: 10.1159/000522004. PMID: 35835064
Miyado M, Fukami M, Ogata T
Sex Dev 2022;16(2-3):126-137. Epub 2021 Oct 25 doi: 10.1159/000519298. PMID: 34695834
Abacı A, Çatlı G, Berberoğlu M
J Pediatr Endocrinol Metab 2015 Sep;28(9-10):1019-27. doi: 10.1515/jpem-2014-0522. PMID: 25879315
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337
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

Clinical prediction guides

Guaragna-Filho G, Guerra-Junior G, Tadokoro-Cuccaro R, Hughes IA, Barros BA, Hiort O, Balsamo A, Guran T, Holterhus PM, Hannema S, Poyrazoglu S, Darendeliler F, Bryce J, Ahmed SF, Quigley CA
Sex Dev 2023;17(1):16-25. Epub 2023 Mar 14 doi: 10.1159/000526997. PMID: 36917969
McElreavey K, Pailhoux E, Bashamboo A
Sex Dev 2022;16(2-3):194-206. Epub 2022 Jul 14 doi: 10.1159/000522004. PMID: 35835064
Miyado M, Fukami M, Ogata T
Sex Dev 2022;16(2-3):126-137. Epub 2021 Oct 25 doi: 10.1159/000519298. PMID: 34695834
Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH
Genome Biol 2016 Nov 29;17(1):243. doi: 10.1186/s13059-016-1105-y. PMID: 27899157Free 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

Recent systematic reviews

Phadte A, Dhole C, Hegishte S, Sarathi V, Lila A, Gada JV, Memon SS, Arya S, Karlekar M, Patil V, Varthakavi PK, Shah N, Bhagwat NM, Bandgar T
Clin Endocrinol (Oxf) 2024 May;100(5):431-440. Epub 2024 Feb 18 doi: 10.1111/cen.15032. PMID: 38368602
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
Islam R, Lane S, Williams SA, Becker CM, Conway GS, Creighton SM
Clin Endocrinol (Oxf) 2019 Aug;91(2):237-244. Epub 2019 May 2 doi: 10.1111/cen.13994. PMID: 31004515

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