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Syndrome with 46,XY disorder of sex development

MedGen UID:
1842210
Concept ID:
C5680224
Disease or Syndrome
Synonym: Syndrome with 46,XY DSD
 
Orphanet: ORPHA98087

Professional guidelines

PubMed

Elamo HP, Virtanen HE, Toppari J
Best Pract Res Clin Endocrinol Metab 2022 Jan;36(1):101619. Epub 2022 Feb 4 doi: 10.1016/j.beem.2022.101619. PMID: 35193821
Stamou MI, Georgopoulos NA
Metabolism 2018 Sep;86:124-134. Epub 2017 Nov 3 doi: 10.1016/j.metabol.2017.10.012. PMID: 29108899Free PMC Article
Layman LC
J Clin Endocrinol Metab 2013 May;98(5):1860-2. doi: 10.1210/jc.2013-1624. PMID: 23650337Free PMC Article

Recent clinical studies

Etiology

Tyutyusheva N, Mancini I, Baroncelli GI, D'Elios S, Peroni D, Meriggiola MC, Bertelloni S
Int J Mol Sci 2021 Jan 27;22(3) doi: 10.3390/ijms22031264. PMID: 33514065Free PMC Article
Thakker S, Persily J, Najari BB
Best Pract Res Clin Endocrinol Metab 2020 Dec;34(6):101475. Epub 2020 Dec 1 doi: 10.1016/j.beem.2020.101475. PMID: 33419659
Mongan NP, Tadokoro-Cuccaro R, Bunch T, Hughes IA
Best Pract Res Clin Endocrinol Metab 2015 Aug;29(4):569-80. Epub 2015 Apr 26 doi: 10.1016/j.beem.2015.04.005. PMID: 26303084
Tadokoro-Cuccaro R, Hughes IA
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):499-503. doi: 10.1097/MED.0000000000000107. PMID: 25354046
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337

Diagnosis

Richard-Eaglin A
Nurs Clin North Am 2018 Sep;53(3):395-405. doi: 10.1016/j.cnur.2018.04.006. PMID: 30100005
Gulía C, Baldassarra S, Zangari A, Briganti V, Gigli S, Gaffi M, Signore F, Vallone C, Nucciotti R, Costantini FM, Pizzuti A, Bernardo S, Porrello A, Piergentili R
Eur Rev Med Pharmacol Sci 2018 Jun;22(12):3873-3887. doi: 10.26355/eurrev_201806_15272. PMID: 29949163
Batista RL, Costa EMF, Rodrigues AS, Gomes NL, Faria JA Jr, Nishi MY, Arnhold IJP, Domenice S, Mendonca BB
Arch Endocrinol Metab 2018 Mar-Apr;62(2):227-235. doi: 10.20945/2359-3997000000031. PMID: 29768628Free PMC Article
Stamou MI, Georgopoulos NA
Metabolism 2018 Sep;86:124-134. Epub 2017 Nov 3 doi: 10.1016/j.metabol.2017.10.012. PMID: 29108899Free PMC Article
Hughes IA, Davies JD, Bunch TI, Pasterski V, Mastroyannopoulou K, MacDougall J
Lancet 2012 Oct 20;380(9851):1419-28. Epub 2012 Jun 13 doi: 10.1016/S0140-6736(12)60071-3. PMID: 22698698

Therapy

Baldo F, Barbi E, Tornese G
Ital J Pediatr 2021 Sep 6;47(1):180. doi: 10.1186/s13052-021-01134-0. PMID: 34488834Free PMC Article
Tyutyusheva N, Mancini I, Baroncelli GI, D'Elios S, Peroni D, Meriggiola MC, Bertelloni S
Int J Mol Sci 2021 Jan 27;22(3) doi: 10.3390/ijms22031264. PMID: 33514065Free PMC Article
Faure-Conter C, Orbach D, Fresneau B, Verité C, Bonneau J, Thebaud E, Poirée M, Thouvenin S, Pluchart C, Mure PY, Dijoud F, Morel Y
Pediatr Blood Cancer 2020 Apr;67(4):e28169. Epub 2020 Feb 4 doi: 10.1002/pbc.28169. PMID: 32020769
Mongan NP, Tadokoro-Cuccaro R, Bunch T, Hughes IA
Best Pract Res Clin Endocrinol Metab 2015 Aug;29(4):569-80. Epub 2015 Apr 26 doi: 10.1016/j.beem.2015.04.005. PMID: 26303084
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337

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
Pineda AG, Leon-Sarmiento FE, Doty RL
Handb Clin Neurol 2019;164:135-144. doi: 10.1016/B978-0-444-63855-7.00009-5. PMID: 31604543
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
Tadokoro-Cuccaro R, Hughes IA
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):499-503. doi: 10.1097/MED.0000000000000107. PMID: 25354046
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337

Clinical prediction guides

McElreavey K, Pailhoux E, Bashamboo A
Sex Dev 2022;16(2-3):194-206. Epub 2022 Jul 14 doi: 10.1159/000522004. PMID: 35835064
Pingault V, Zerad L, Bertani-Torres W, Bondurand N
J Med Genet 2022 Feb;59(2):105-114. Epub 2021 Oct 19 doi: 10.1136/jmedgenet-2021-108105. PMID: 34667088Free PMC Article
Hornig NC, Holterhus PM
Mol Cell Endocrinol 2021 Mar 1;523:111146. Epub 2020 Dec 29 doi: 10.1016/j.mce.2020.111146. PMID: 33385475
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
Tadokoro-Cuccaro R, Hughes IA
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):499-503. doi: 10.1097/MED.0000000000000107. PMID: 25354046

Recent systematic reviews

Patil VA, Lila AR, Shah N, Arya S, Sarathi V, Shah R, Jadhav SS, Memon SS, Karlekar M, Bandgar T
Clin Endocrinol (Oxf) 2022 Dec;97(6):804-813. Epub 2022 Sep 30 doi: 10.1111/cen.14822. PMID: 36138264
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
Taghavi K, Dumble C, Hutson JM, Mushtaq I, Mirjalili SA
J Pediatr Surg 2021 Aug;56(8):1405-1410. Epub 2020 Jun 25 doi: 10.1016/j.jpedsurg.2020.06.023. PMID: 32762939
Godfrey LM
J Health Psychol 2021 Jan;26(1):40-59. Epub 2020 Mar 5 doi: 10.1177/1359105320909863. PMID: 32133887
McQuillan SK, Grover SR
Int Urogynecol J 2014 Oct;25(10):1313-20. Epub 2014 Feb 15 doi: 10.1007/s00192-013-2316-3. PMID: 24531406

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