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Klinefelter Syndrome, Variants

MedGen UID:
107774
Concept ID:
C0543754
Disease or Syndrome
Synonyms: Klinefelter Syndromes, Variants; Syndrome, Variants Klinefelter; Syndromes, Variants Klinefelter

Recent clinical studies

Etiology

Erkal B, Kalayci Yigin A, Palanduz S, Dasdemir S, Seven M
Am J Mens Health 2018 Nov;12(6):2152-2156. doi: 10.1177/1557988318801158. PMID: 30334491Free PMC Article
Williams LA, Pankratz N, Lane J, Krailo M, Roesler M, Richardson M, Frazier AL, Amatruda JF, Poynter JN
Cancer 2018 Oct 1;124(19):3900-3908. Epub 2018 Oct 6 doi: 10.1002/cncr.31667. PMID: 30291793Free PMC Article
Busch AS, Tüttelmann F, Zitzmann M, Kliesch S, Gromoll J
Eur J Hum Genet 2015 May;23(5):700-3. Epub 2014 Jul 23 doi: 10.1038/ejhg.2014.142. PMID: 25052309Free PMC Article
Abdel-Razic MM, Abdel-Hamid IA, Elsobky E, El-Dahtory F
J Androl 2012 May-Jun;33(3):441-8. Epub 2011 Jul 14 doi: 10.2164/jandrol.110.011536. PMID: 21757513
Frühmesser A, Kotzot D
Sex Dev 2011;5(3):109-23. Epub 2011 Apr 29 doi: 10.1159/000327324. PMID: 21540567

Diagnosis

Salemi M, Cimino L, Marino M, Cannarella R, Condorelli RA, Romano C, La Vignera S, Calogero AE
Int J Med Sci 2018;15(1):31-35. Epub 2018 Jan 1 doi: 10.7150/ijms.21075. PMID: 29333085Free PMC Article
Song JS, Lee SH, Jin DK, Kim SH
Genet Couns 2014;25(2):215-20. PMID: 25059022
Abdel-Razic MM, Abdel-Hamid IA, Elsobky E, El-Dahtory F
J Androl 2012 May-Jun;33(3):441-8. Epub 2011 Jul 14 doi: 10.2164/jandrol.110.011536. PMID: 21757513
Tartaglia N, Ayari N, Howell S, D'Epagnier C, Zeitler P
Acta Paediatr 2011 Jun;100(6):851-60. Epub 2011 Apr 8 doi: 10.1111/j.1651-2227.2011.02235.x. PMID: 21342258Free PMC Article
Paduch DA, Fine RG, Bolyakov A, Kiper J
Curr Opin Urol 2008 Nov;18(6):621-7. doi: 10.1097/MOU.0b013e32831367c7. PMID: 18832949

Therapy

Fainberg J, Hayden RP, Schlegel PN
Expert Rev Endocrinol Metab 2019 Nov;14(6):369-380. Epub 2019 Oct 7 doi: 10.1080/17446651.2019.1671821. PMID: 31587581
Lizarazo AH, McLoughlin M, Vogiatzi MG
Curr Opin Endocrinol Diabetes Obes 2019 Feb;26(1):60-65. doi: 10.1097/MED.0000000000000454. PMID: 30507702
Flannigan R, Patel P, Paduch DA
Sex Med Rev 2018 Oct;6(4):595-606. Epub 2018 Apr 19 doi: 10.1016/j.sxmr.2018.02.008. PMID: 29680294
Dotters-Katz SK, Humphrey WM, Senz KL, Lee VR, Shaffer BL, Caughey AB
Eur J Obstet Gynecol Reprod Biol 2016 Aug;203:173-6. Epub 2016 Jun 9 doi: 10.1016/j.ejogrb.2016.05.006. PMID: 27318449
Paduch DA, Fine RG, Bolyakov A, Kiper J
Curr Opin Urol 2008 Nov;18(6):621-7. doi: 10.1097/MOU.0b013e32831367c7. PMID: 18832949

Prognosis

Fainberg J, Hayden RP, Schlegel PN
Expert Rev Endocrinol Metab 2019 Nov;14(6):369-380. Epub 2019 Oct 7 doi: 10.1080/17446651.2019.1671821. PMID: 31587581
Samango-Sprouse C, Lasutschinkow P, Powell S, Sadeghin T, Gropman A
Am J Med Genet A 2019 Mar;179(3):423-428. Epub 2019 Jan 13 doi: 10.1002/ajmg.a.61038. PMID: 30637954
Sciarra F, Pelloni M, Faja F, Pallotti F, Martino G, Radicioni AF, Lenzi A, Lombardo F, Paoli D
J Endocrinol Invest 2019 Jul;42(7):833-842. Epub 2018 Nov 29 doi: 10.1007/s40618-018-0989-7. PMID: 30499012
Tsuruta S, Kimura N, Ishido K, Kudo D, Sato K, Endo T, Yoshizawa T, Sukeda A, Hiraoka N, Kijima H, Hakamada K
World J Surg Oncol 2018 Nov 19;16(1):227. doi: 10.1186/s12957-018-1528-x. PMID: 30453967Free PMC Article
Salzano A, D'Assante R, Heaney LM, Monaco F, Rengo G, Valente P, Pasquali D, Bossone E, Gianfrilli D, Lenzi A, Cittadini A, Marra AM, Napoli R
Endocrine 2018 Aug;61(2):194-203. Epub 2018 Mar 23 doi: 10.1007/s12020-018-1584-6. PMID: 29572708

Clinical prediction guides

Erkal B, Kalayci Yigin A, Palanduz S, Dasdemir S, Seven M
Am J Mens Health 2018 Nov;12(6):2152-2156. doi: 10.1177/1557988318801158. PMID: 30334491Free PMC Article
Salemi M, Cimino L, Marino M, Cannarella R, Condorelli RA, Romano C, La Vignera S, Calogero AE
Int J Med Sci 2018;15(1):31-35. Epub 2018 Jan 1 doi: 10.7150/ijms.21075. PMID: 29333085Free PMC Article
Busch AS, Tüttelmann F, Zitzmann M, Kliesch S, Gromoll J
Eur J Hum Genet 2015 May;23(5):700-3. Epub 2014 Jul 23 doi: 10.1038/ejhg.2014.142. PMID: 25052309Free PMC Article
Abdel-Razic MM, Abdel-Hamid IA, Elsobky E, El-Dahtory F
J Androl 2012 May-Jun;33(3):441-8. Epub 2011 Jul 14 doi: 10.2164/jandrol.110.011536. PMID: 21757513
Frühmesser A, Kotzot D
Sex Dev 2011;5(3):109-23. Epub 2011 Apr 29 doi: 10.1159/000327324. PMID: 21540567

Recent systematic reviews

Accardo G, Amoresano Paglionico V, Di Fraia R, Cittadini A, Salzano A, Esposito D, De Bellis A, Pasquali D
Expert Rev Endocrinol Metab 2019 Mar;14(2):145-152. Epub 2019 Feb 22 doi: 10.1080/17446651.2019.1584036. PMID: 30793993
Flannigan R, Patel P, Paduch DA
Sex Med Rev 2018 Oct;6(4):595-606. Epub 2018 Apr 19 doi: 10.1016/j.sxmr.2018.02.008. PMID: 29680294
Corona G, Pizzocaro A, Lanfranco F, Garolla A, Pelliccione F, Vignozzi L, Ferlin A, Foresta C, Jannini EA, Maggi M, Lenzi A, Pasquali D, Francavilla S; Klinefelter ItaliaN Group (KING).
Hum Reprod Update 2017 May 1;23(3):265-275. doi: 10.1093/humupd/dmx008. PMID: 28379559
Mehta A, Paduch DA
Fertil Steril 2012 Aug;98(2):274-83. Epub 2012 Jun 23 doi: 10.1016/j.fertnstert.2012.06.001. PMID: 22732737
Denschlag D, Tempfer C, Kunze M, Wolff G, Keck C
Fertil Steril 2004 Oct;82(4):775-9. doi: 10.1016/j.fertnstert.2003.09.085. PMID: 15482743

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