• 1
    Bojesen A, Juul S, Gravholt CH. Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J. Clin. Endocrinol. Metab. 2003; 88: 6226.
  • 2
    Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E. Klinefelter syndrome. Lancet 2004; 364: 27383.
  • 3
    Morris JK, Alberman E, Scott C, Jacobs P. Is the prevalence of Klinefelter syndrome increasing? Eur. J. Hum. Genet. 2008; 16: 16370.
  • 4
    Klinefelter HF, Reifenstein EC, Albright F. Syndrome characterized by gynecomastia, aspermatogenesis without A-Leydigism, and increased excretion of follicle-stimulating hormone. J. Clin. Endocrinol. Metab. 1942; 2: 61527.
  • 5
    Paduch DA, Bolyakov A, Cohen P, Travis A. Reproduction in men with Klinefelter syndrome: the past, the present, and the future. Semin. Reprod. Med. 2009; 27: 13748.
  • 6
    Aksglaede L, Petersen J, Main K, Shakkebaek NE, Juul A. High normal testosterone levels in infants with non-mosaic Klinefelter syndrome. Eur. J. Endocrinol. 2007; 157: 34550.
  • 7
    Wikstrom AM, Bay K, Hero M, Andersson AM, Dunkel L. Serum insulin-like factor 3 levels during puberty in healthy boys and boys with Klinefelter syndrome. J. Clin. Endocrinol. Metab. 2006; 91: 47058.
  • 8
    Aksglaede L, Wikstrom AM, Rajpert-De ME, Dunkel L, Skakkebaek NE, Juul A. Natural history of seminiferous tubule degeneration in Klinefelter syndrome. Hum. Reprod. Update 2006; 12: 3948.
  • 9
    Veldhuis JD, Metzger DL, Martha PM Jr et al. Estrogen and testosterone, but not a nonaromatizable androgen, direct network integration of the hypothalamo-somatotrope (growth hormone)-insulin-like growth factor I axis in the human: evidence from pubertal pathophysiology and sex-steroid hormone replacement. J. Clin. Endocrinol. Metab. 1997; 82: 341420.
  • 10
    Aksglaede L, Shakkebaek NE, Juul A. Abnormal sex chromosome constitution and longitudinal growth: serum levels of insulin-like growth factor (IGF)-I, IGF binding protein-3, luteinizing hormone, and testosterone in 109 males with 47,XXY, 47,XYY, or sex-determining region of the Y chromosome (SRY)-positive 46,XX karyotypes. J. Clin. Endocrinol. Metab. 2008; 93: 16976.
  • 11
    Berman DM, Rodriguez R, Veltri RW. Development, molecular biology, and physiology of the prostate. In: Wein AJ, Kavoussi LR, Novick AC, Partin AW, Peters CA (eds). Campbell-Walsh Urology, 10th edn. Saunders, Philadelphia, PA, 2011; 253369.
  • 12
    Watanabe H, Igari D, Tanahashi Y, Harada K, Saito M. Measurement of size and weight of prostate by means of transrectal ultrasonotomography. Tohoku J. Exp. Med. 1974; 114: 27785.
  • 13
    Escobar MA, Lau ST, Glick PL. Congenital bilateral absence of the vas deferens. J. Pediatr. Surg. 2008; 43: 12223.
  • 14
    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: 37684.
  • 15
    Selice R, Di Mambro A, Garolla A et al. Spermatogenesis in Klinefelter syndrome. J. Endocrinol. Invest. 2010; 33: 78993.
  • 16
    Vernaeve V, Staessen C, Verheyen G et al. Can biological or clinical parameters predict testicular sperm recovery in 47,XXY Klinefelter syndrome patients? Hum. Reprod. 2004; 19: 11359.
  • 17
    Schwarzer JU, Fiedler K, v Hertwig I et al. Sperm retrieval procedures and intracytoplasmatic spermatozoa injection with epididymal and testicular sperms. Urol. Int. 2003; 70: 11923.
  • 18
    Schiff JD, Palermo GD, Veeck LL, Goldstein M, Rosenwaks Z, Schlegel PN. Success of testicular sperm extraction (corrected) and intracytoplasmatic sperm injection in men with Klinefelter syndrome. J. Clin. Endocrinol. Metab. 2005; 90: 62637.
  • 19
    Seo JT, Lee JS, Oh TH, Joo KJ. The clinical significance of bone mineral density and testosterone levels in Korean men with non-mosaic Klinefelter syndrome. BJU Int. 2007; 99: 1416.
  • 20
    Okada H, Goda K, Yanamoto Y et al. Age as a limiting factor for successful sperm retrieval in patients with nonmosaic Klinefelter syndrome. Fertil. Steril. 2005; 84: 16624.
  • 21
    Ferhi K, Avakian R, Griveau JF, Guille F. Age as only predictive factor for successful sperm recovery in patients with Klinefelter's syndrome. Andrologia 2009; 41: 847.
  • 22
    Emre BM, Erden HF, Kaplancan T, Ciray N, Bener F, Bahceci M. Aging may adversely affect testicular sperm recovery in patients with Klinefelter syndrome. Urology 2006; 68: 10826.
  • 23
    Holm M, Rajpert-De Meyts E, Andersson AM, Skakkebaek NE. Leydig cell micronodules are a common finding in testicular biopsies from men with impaired spermatogenesis and are associated with decreased testosterone/LH ratio. J. Pathol. 2003; 199: 37886.
  • 24
    Andersson AM, Jørgensen N, Frydelund-Larsen L, Rajpert-De Meyts E, Skakkebaek NE. Impaired Leydig cell function in infertile men: a study of 357 idiopathic infertile men and 318 proven fertile controls. J. Clin. Endocrinol. Metab. 2004; 89: 31617.
  • 25
    Wikstrom AM, Dunkel L. Testicular function in Klinefelter syndrome. Horm. Res. 2008; 69: 31726.
  • 26
    Corona G, Petrone L, Mannucci E et al. The impotent couple: low desire. Int. J. Androl. 2005; 28: 4652.
  • 27
    Corona G, Petrone L, Paggi F et al. Sexual dysfunction in subjects with Klinefelter syndrome. Int. J. Androl. 2010; 33: 57480.
  • 28
    Verri A, Cremante A, Clerici F, Destefani V, Radicioni A. Klinefelter's syndrome and psychoneurologic function. Mol. Hum. Reprod. 2010; 16: 42533.
  • 29
    Leggett V, Jacobs P, Nation K, Scerif G, Bishop DV. Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review. Dev. Med. Child Neurol. 2010; 52: 11929.
  • 30
    van Rijn S, Swaab H, Magnée M, van Engeland H, Kemner C. Psychophysiological Markers of Vulnerability to Psychopathology in Men with an Extra X Chromosome (XXY). PLoS ONE 2011; 6: e20292.
  • 31
    Jannini EA, Lenzi A, Wagner G. Behavioural therapy and counseling. In: Schill WB, Comhaire FH, Hargreave TB (eds). Andrology Fror the Clinician. Springer, Berlin, 2006; 598607.
  • 32
    Girardin CM, Lemyere 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: 98105.
  • 33
    Zacharin MR, Warne GL. Treatment of hypogonadal adolescent boys with long acting subcutaneous testosterone pellets. Arch. Dis. Child. 1997; 76: 4959.
  • 34
    Ross JL, Stefanatos GA, Roeltgen D. Klinefelter syndrome. In: Mazzucco MM, Ross LJ (eds). Neurogenetic Developmental Disorders: Variation of Manifestation in Childhood. MIT Press, Boston, MA, 2007; 4373.
  • 35
    Felin Ferlin A, Schipilliti M, Di Mambro A, Vinanzi C, Foresta C. Osteoporosis in Klinefelter's syndrome. Mol. Hum. Reprod. 2010; 16: 40210.
  • 36
    de Ronde W, de Haan A, Drent ML. Quality of life is reduced in patients with Klinefelter syndrome on androgen replacement therapy. Eur. J. Endocrinol. 2009; 160: 4658.
  • 37
    Bojesen A, Gravholt CH. Klinefelter syndrome in clinical practice. Nat. Clin. Pract. Urol. 2007; 4: 192204.