Abstract
Knowledge of the molecular mechanisms responsible for testicular failure still remains poor. The testicular volume, the histological features, and the serologic markers of gonadal function vary in different stages of life. The extra genetic material could play an important role in the pathophysiology of testicular development. It is possible that the testicular defect is primarily found in the germ cells or in an abnormal gonadal microenvironment.
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References
Chang S, Skakkebæk A, Trolle C, Bojesen A, Hertz JM, Cohen A, Hougaard DM, Wallentin M, Pedersen AD, Østergaard JR, Gravholt CH. Anthropometry in Klinefelter syndrome—multifactorial influences due to CAG length, testosterone treatment and possibly intrauterine hypogonadism. J Clin Endocrinol Metab. 2015;100:508–17.
Bojesen A, Hertz JM, Gravholt CH. Genotype and phenotype in Klinefelter syndrome—impact of androgen receptor polymorphism and skewed X inactivation. Int J Androl. 2011;34:642–8.
Zinn AR, Ramos P, Elder FF, Kowal K, Samango-Sprouse C, Ross JL. Androgen receptor CAGn repeat length influences phenotype of 47,XXY (Klinefelter) syndrome. J Clin Endocrinol Metab. 2005;90:5041–6.
Zitzmann M, Depenbusch M, Gromoll J, Nieschlag E. X-chromosome inactivation patterns and androgen receptor functionality influence phenotype and social characteristics as well as pharmacogenetics of testosterone therapy in Klinefelter patients. J Clin Endocrinol Metab. 2004;89:6208–17.
Hadziselimovic F, Huff D. Gonadal differentiation—normal and abnormal testicular development. Adv Exp Med Biol. 2002;511:15–21.
Wikström AM, Dunkel L. Testicular function in Klinefelter syndrome. Horm Res. 2008;69:317–26.
Davis SM, Rogol AD, Ross JL. Testis development and reproductive options in males with Klinefelter syndrome. Endocrinol Metab Clin North Am. 2015;44:843–65.
Moal V, Mathieu E, Reynier P, Malthiery Y, Gallois Y. Low serum testosterone assayed by liquid chromatography-tandem mass spectrometry. Comparison with five immunoassay techniques. Clin Chim Acta. 2007;386:12–9.
Boas M, Boisen KA, Virtanen HE, Kaleva M, Suomi AM, Schmidt IM, Damgaard IN, Kai CM, Chellakooty M, Skakkebaek NE, Toppari J, Main KM. Postnatal penile length and growth rate correlate to serum testosterone levels: a longitudinal study of 1962 normal boys. Eur J Endocrinol. 2006;154:125–9.
Cabrol S, Ross JL, Fennoy I, Bouvattier C, Roger M, Lahlou N. Assessment of Leydig and Sertoli cell functions in infants with nonmosaic Klinefelter syndrome: insulin-like peptide 3 levels are normal and positively correlated with LH levels. J Clin Endocrinol Metab. 2011;96:746–53.
Lahlou N, Fennoy I, Carel JC, Roger M. Inhibin B and anti-Mullerian hormone, but not testosterone levels, are normal in infants with nonmosaic Klinefelter syndrome. J Clin Endocrinol Metab. 2004;89:1864–8.
Aksglaede L, Christiansen P, Sørensen K, Boas M, Linneberg A, Main KM, Andersson AM, Skakkebaek NE, Juul A. Serum concentrations of anti-Mullerian hormone (AMH) in 95 patients with Klinefelter syndrome with or without cryptorchidism. Acta Paediatr. 2011;100:839–45.
Aksglaede L, Sorensen K, Boas M, Mouritsen A, Hagen CP, Jensen RB, Petersen JH, Linneberg A, Andersson AM, Main KM, Skakkebæk NE, Juul A. Changes in anti-Mullerian hormone (AMH) throughout the life span: a population-based study of 1027 healthy males from birth (cord blood) to the age of 69 years. J Clin Endocrinol Metab. 2010;95:5357–64.
Pacenza N, Pasqualini T, Gottlieb S, Knoblovits P, Costanzo PR, Stewart Usher J, Rey RA, MartÃnez MP, Aszpis S. Clinical presentation of Klinefelter’s syndrome: differences according to age. Int J Endocrinol. 2012;2012:324835.
Aksglaede L, Skakkebaek NE, Almstrup K, Juul A. Clinical and biological parameters in 166 boys, adolescent and adults with nonmosaic Klinefelter syndrome: a Copenhagen experience. Acta Paediatr. 2011;100:793–806.
Radicioni AF, De Marco E, Gianfrilli D, Granato S, Gandini L, Isidori AM, Lenzi A. Strategies and advantages of early diagnosis in Klinefelter’s syndrome. Mol Hum Reprod. 2010;16:434–40.
Sharpe RM, McKinnell C, Kivlin C, Fisher JS. Proliferation and functional maturation of Sertoli cells, and their relevance to disorders of testis function in adulthood. Reproduction. 2003;25:769–84.
Wikström AM, Hoei-Hansen CE, Dunkel L, Rajpert-De ME. Immunoexpression of androgen receptor and nine markers of maturation in the testes of adolescent boys with Klinefelter syndrome: evidence for degeneration of germ cells at the onset of meiosis. J Clin Endocrinol Metab. 2007;92:714–9.
Christiansen P, Andersson AM, Skakkebaek NE. Longitudinal studies of inhibin B levels in boys and young adults with Klinefelter syndrome. J Clin Endocrinol Metab. 2003;88:888–91.
Overvad S, Bay K, Bojesen A, Gravholt CH. Low INSL3 in Klinefelter syndrome is related to osteocalcin, testosterone treatment and body composition, as well as measures of the hypothalamic-pituitary-gonadal axis. Andrology. 2014;2:421–7.
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Calogero, A.E., Condorelli, R.A., La Vignera, S. (2020). Testicular Development. In: Garolla, A., Corona, G. (eds) Klinefelter’s Syndrome. Trends in Andrology and Sexual Medicine. Springer, Cham. https://doi.org/10.1007/978-3-030-51410-5_11
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