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Volumn 52, Issue 10, 2013, Pages 936-941

Klinefelter syndrome: Are we missing opportunities for early detection?

Author keywords

early detection; Klinefelter syndrome

Indexed keywords

ADOLESCENCE; ADOLESCENT; ADULT; AGE DISTRIBUTION; ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; BODY HEIGHT; CHILD; CHILDHOOD; CRYPTORCHISM; DISEASE ASSOCIATION; DISEASE SEVERITY; EARLY DIAGNOSIS; EPILEPSY; FEBRILE CONVULSION; FRAGILE X SYNDROME; HEADACHE; HUMAN; ICD-9; INGUINAL HERNIA; KARYOTYPE 47,XXY; KLINEFELTER SYNDROME; LEARNING DISORDER; MAJOR CLINICAL STUDY; MALE; PEDIATRIC HOSPITAL; PHENOTYPE; PSYCHOSOCIAL DISORDER; RETROSPECTIVE STUDY; SCHOOL CHILD; SCOLIOSIS;

EID: 84884200141     PISSN: 00099228     EISSN: 19382707     Source Type: Journal    
DOI: 10.1177/0009922813493831     Document Type: Article
Times cited : (16)

References (27)
  • 1
    • 0025542292 scopus 로고
    • Sex chromosome abnormalities found among 34,910 newborn children: Results from a 13-year incidence study in Arhus, Denmark
    • Nielsen J, Wohlert M. Sex chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Birth Defects Orig Artic Ser. 1990 ; 26: 209-223
    • (1990) Birth Defects Orig Artic ser , vol.26 , pp. 209-223
    • Nielsen, J.1    Wohlert, M.2
  • 2
    • 70350519151 scopus 로고    scopus 로고
    • Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA
    • Coffee B, Keith K, Albizua I, et al. Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet. 2009 ; 85: 503-514
    • (2009) Am J Hum Genet , vol.85 , pp. 503-514
    • Coffee, B.1    Keith, K.2    Albizua, I.3
  • 3
    • 0037326103 scopus 로고    scopus 로고
    • Prenatal and postnatal prevalence of Klinefelter syndrome: A national registry study
    • Bojesen A, Juul S, Gravholt CH. Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab. 2003 ; 88: 622-626
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 622-626
    • Bojesen, A.1    Juul, S.2    Gravholt, C.H.3
  • 4
    • 79955524082 scopus 로고    scopus 로고
    • Morbidity and mortality in Klinefelter syndrome (47,XXY)
    • Bojesen A, Gravholt CH. Morbidity and mortality in Klinefelter syndrome (47,XXY). Acta Paediatr. 2011 ; 100: 807-813
    • (2011) Acta Paediatr , vol.100 , pp. 807-813
    • Bojesen, A.1    Gravholt, C.H.2
  • 5
    • 40449140662 scopus 로고    scopus 로고
    • Cognitive and motor development during childhood in boys with Klinefelter syndrome
    • Ross JL, Roeltgen DP, Stefanatos G, et al. Cognitive and motor development during childhood in boys with Klinefelter syndrome. Am J Med Genet A. 2008 ; 146A: 708-719
    • (2008) Am J Med Genet A , vol.146 , pp. 708-719
    • Ross, J.L.1    Roeltgen, D.P.2    Stefanatos, G.3
  • 6
    • 66049159361 scopus 로고    scopus 로고
    • Psychiatric characteristics in a self-selected sample of boys with Klinefelter syndrome
    • Bruining H, Swaab H, Kas M, van Engeland H. Psychiatric characteristics in a self-selected sample of boys with Klinefelter syndrome. Pediatrics. 2009 ; 123: e865 - e870
    • (2009) Pediatrics , vol.123
    • Bruining, H.1    Swaab, H.2    Kas, M.3    Van Engeland, H.4
  • 7
    • 80755128148 scopus 로고    scopus 로고
    • Prevalence and psychosocial correlates of depressive symptoms among adolescents and adults with Klinefelter syndrome
    • Turriff A, Levy HP, Biesecker B. Prevalence and psychosocial correlates of depressive symptoms among adolescents and adults with Klinefelter syndrome. Genet Med. 2011 ; 13: 966-972
    • (2011) Genet Med , vol.13 , pp. 966-972
    • Turriff, A.1    Levy, H.P.2    Biesecker, B.3
  • 8
    • 77953935513 scopus 로고    scopus 로고
    • Clinical and therapeutic aspects of Klinefelter's syndrome: Sexual function
    • Vignozzi L, Corona G, Forti G, Jannini EA, Maggi M. Clinical and therapeutic aspects of Klinefelter's syndrome: sexual function. Mol Hum Reprod. 2010 ; 16: 418-424
    • (2010) Mol Hum Reprod , vol.16 , pp. 418-424
    • Vignozzi, L.1    Corona, G.2    Forti, G.3    Jannini, E.A.4    Maggi, M.5
  • 9
    • 84864478607 scopus 로고    scopus 로고
    • It's not all about the testes: Medical issues in Klinefelter patients
    • Sokol RZ. It's not all about the testes: medical issues in Klinefelter patients. Fertil Steril. 2012 ; 98: 261-265
    • (2012) Fertil Steril , vol.98 , pp. 261-265
    • Sokol, R.Z.1
  • 10
    • 79955489888 scopus 로고    scopus 로고
    • Body composition, metabolic syndrome and type 2 diabetes in Klinefelter syndrome
    • Gravholt CH, Jensen AS, Høst C, Bojesen A. Body composition, metabolic syndrome and type 2 diabetes in Klinefelter syndrome. Acta Paediatr. 2011 ; 100: 871-877
    • (2011) Acta Paediatr , vol.100 , pp. 871-877
    • Gravholt, C.H.1    Jensen, A.S.2    Høst, C.3    Bojesen, A.4
  • 12
    • 85003166195 scopus 로고
    • Syndrome characterized by gynecomastia aspermatogensis without a-Lyedigism and increased excretion of follicle-stimulating hormone
    • Klinefelter HF, Reifenstein EC, Albright F. Syndrome characterized by gynecomastia aspermatogensis without a-Lyedigism and increased excretion of follicle-stimulating hormone. J Clin Endocrinol Metab. 1942 ; 2: 615-627
    • (1942) J Clin Endocrinol Metab , vol.2 , pp. 615-627
    • Klinefelter, H.F.1    Reifenstein, E.C.2    Albright, F.3
  • 15
    • 76749101885 scopus 로고    scopus 로고
    • Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009?
    • Fullerton G, Hamilton M, Maheshwari A. Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009?. Hum Reprod. 2010 ; 25: 588-597
    • (2010) Hum Reprod , vol.25 , pp. 588-597
    • Fullerton, G.1    Hamilton, M.2    Maheshwari, A.3
  • 16
    • 28944450479 scopus 로고    scopus 로고
    • Age as a limiting factor for successful sperm retrieval in patients with nonmosaic Klinefelter's syndrome
    • Okada H, Goda K, Yamamoto Y, et al. Age as a limiting factor for successful sperm retrieval in patients with nonmosaic Klinefelter's syndrome. Fertil Steril. 2005 ; 84: 1662-1664
    • (2005) Fertil Steril , vol.84 , pp. 1662-1664
    • Okada, H.1    Goda, K.2    Yamamoto, Y.3
  • 17
    • 67651241729 scopus 로고    scopus 로고
    • Low semen volume in 47 adolescents and adults with 47,XXY Klinefelter or 46,XX male syndrome
    • Aksglaede L, Jørgensen N, Skakkebaek NE, Juul A. Low semen volume in 47 adolescents and adults with 47,XXY Klinefelter or 46,XX male syndrome. Int J Androl. 2009 ; 32: 376-384
    • (2009) Int J Androl , vol.32 , pp. 376-384
    • Aksglaede, L.1    Jørgensen, N.2    Skakkebaek, N.E.3    Juul, A.4
  • 19
    • 84855871070 scopus 로고    scopus 로고
    • Can pubertal boys with Klinefelter syndrome benefit from spermatogonial stem cell banking?
    • Van Saen D, Gies I, De Schepper J, Tournaye H, Goossens E. Can pubertal boys with Klinefelter syndrome benefit from spermatogonial stem cell banking?. Hum Reprod. 2012 ; 27: 323-330
    • (2012) Hum Reprod , vol.27 , pp. 323-330
    • Van Saen, D.1    Gies, I.2    De Schepper, J.3    Tournaye, H.4    Goossens, E.5
  • 21
    • 84856389510 scopus 로고    scopus 로고
    • Clinical presentation of Klinefelter's syndrome: Differences according to age
    • Pacenza N, Pasqualini T, Gottlieb S, et al. Clinical presentation of Klinefelter's syndrome: differences according to age. Int J Endocrinol. 2012 ;: 2012-324835
    • (2012) Int J Endocrinol , pp. 2012-324835
    • Pacenza, N.1    Pasqualini, T.2    Gottlieb, S.3
  • 22
    • 79955524495 scopus 로고    scopus 로고
    • 48,XXYY, 48,XXXY and 49,XXXXY syndromes: Not just variants of Klinefelter syndrome
    • Tartaglia N, Ayari N, Howell S, D'Epagnier C, Zeitler P. 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome. Acta Paediatr. 2011 ; 100: 851-860
    • (2011) Acta Paediatr , vol.100 , pp. 851-860
    • Tartaglia, N.1    Ayari, N.2    Howell, S.3    D'Epagnier, C.4    Zeitler, P.5
  • 23
    • 84873093580 scopus 로고    scopus 로고
    • Neurocognitive variance and neurological underpinnings of the X and y chromosomal variations
    • Gropman A, Samango-Sprouse CA. Neurocognitive variance and neurological underpinnings of the X and Y chromosomal variations. Am J Med Genet C Semin Med Genet. 2013 ; 163: 35-43
    • (2013) Am J Med Genet C Semin Med Genet , vol.163 , pp. 35-43
    • Gropman, A.1    Samango-Sprouse, C.A.2
  • 25
    • 79952676011 scopus 로고    scopus 로고
    • Consensus statement on diagnosis and clinical management of Klinefelter syndrome
    • Radicioni AF, Ferlin A, Balercia G, et al. Consensus statement on diagnosis and clinical management of Klinefelter syndrome. J Endocrinol Invest. 2010 ; 33: 839-850
    • (2010) J Endocrinol Invest , vol.33 , pp. 839-850
    • Radicioni, A.F.1    Ferlin, A.2    Balercia, G.3
  • 26
    • 69249141907 scopus 로고    scopus 로고
    • Comparison of adolescents with Klinefelter syndrome according to the circumstances of diagnosis: Amniocentesis versus clinical signs
    • Girardin CM, Lemyre E, Alos N, Deal C, Huot C, Van Vliet G. Comparison of adolescents with Klinefelter syndrome according to the circumstances of diagnosis: amniocentesis versus clinical signs. Horm Res. 2009 ; 72: 98-105
    • (2009) Horm Res , vol.72 , pp. 98-105
    • Girardin, C.M.1    Lemyre, E.2    Alos, N.3    Deal, C.4    Huot, C.5    Van Vliet, G.6
  • 27
    • 79955522645 scopus 로고    scopus 로고
    • Clinical and biological parameters in 166 boys, adolescents and adults with nonmosaic Klinefelter syndrome: A Copenhagen experience
    • Aksglaede L, Skakkebaek NE, Almstrup K, Juul A. Clinical and biological parameters in 166 boys, adolescents and adults with nonmosaic Klinefelter syndrome: a Copenhagen experience. Acta Paediatr. 2011 ; 100: 793-806
    • (2011) Acta Paediatr , vol.100 , pp. 793-806
    • Aksglaede, L.1    Skakkebaek, N.E.2    Almstrup, K.3    Juul, A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.