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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

Dahl AR, Dhamija R, Al Nofal A, Pittock ST, Schwenk WF, Kumar S
J Clin Res Pediatr Endocrinol 2018 Mar 1;10(1):79-82. Epub 2017 Aug 2 doi: 10.4274/jcrpe.4807. PMID: 28766502Free 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
Hong DS, Hoeft F, Marzelli MJ, Lepage JF, Roeltgen D, Ross J, Reiss AL
J Neurosci 2014 Mar 5;34(10):3509-16. doi: 10.1523/JNEUROSCI.2790-13.2014. PMID: 24599451Free 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

Ross JL, Kushner H, Kowal K, Bardsley M, Davis S, Reiss AL, Tartaglia N, Roeltgen D
J Pediatr 2017 Jun;185:193-199.e4. Epub 2017 Mar 10 doi: 10.1016/j.jpeds.2017.02.036. PMID: 28285751
Glueck CJ, Jetty V, Goldenberg N, Shah P, Wang P
Clin Appl Thromb Hemost 2017 Nov;23(8):973-979. Epub 2016 Sep 24 doi: 10.1177/1076029616665923. PMID: 27582022
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
Plotton I, Brosse A, Cuzin B, Lejeune H
Ann Endocrinol (Paris) 2014 May;75(2):118-25. Epub 2014 Apr 29 doi: 10.1016/j.ando.2014.04.004. PMID: 24786702
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

Franik S, Smeets D, van de Zande G, Gomes I, D'Hauwers K, Braat DDM, Fleischer K, Ramos L
Andrologia 2018 Jun;50(5):e13004. Epub 2018 Mar 7 doi: 10.1111/and.13004. PMID: 29512178
Skakkebæk A, Moore PJ, Chang S, Fedder J, Gravholt CH
Genet Med 2018 Feb;20(2):214-222. Epub 2017 Jul 20 doi: 10.1038/gim.2017.110. PMID: 28726803
Arditi JD, Thomaidis L, Frysira H, Doulgeraki A, Chrousos GP, Kanaka-Gantenbein C
J Pediatr Endocrinol Metab 2017 Jul 26;30(7):797-803. doi: 10.1515/jpem-2016-0362. PMID: 28672740
Franik S, Hoeijmakers Y, D'Hauwers K, Braat DD, Nelen WL, Smeets D, Claahsen-van der Grinten HL, Ramos L, Fleischer K
Hum Reprod 2016 Sep;31(9):1952-9. Epub 2016 Jul 13 doi: 10.1093/humrep/dew179. PMID: 27412247
Kleiman SE, Yogev L, Lehavi O, Yavetz H, Hauser R
J Assist Reprod Genet 2016 Jun;33(6):807-14. Epub 2016 Mar 19 doi: 10.1007/s10815-016-0698-0. PMID: 26995389Free PMC Article

Clinical prediction guides

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
Hong DS, Hoeft F, Marzelli MJ, Lepage JF, Roeltgen D, Ross J, Reiss AL
J Neurosci 2014 Mar 5;34(10):3509-16. doi: 10.1523/JNEUROSCI.2790-13.2014. PMID: 24599451Free 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

O'Donovan R, Völlm B
Crim Behav Ment Health 2018 Apr;28(2):132-140. Epub 2017 Aug 7 doi: 10.1002/cbm.2052. PMID: 28782868
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
Mansfield C, Hopfer S, Marteau TM
Prenat Diagn 1999 Sep;19(9):808-12. PMID: 10521836

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