Medicine PCoASfR. Diagnostic evaluation of the infertile male: a committee opinion. Fertil Steril. 2012;98(2):294–301.
Jungwirth A, Giwercman A, Tournaye H, Diemer T, Kopa Z, Dohle G, et al. European Association of Urology guidelines on male infertility: the 2012 update. Eur Urol. 2012;62(2):324–32.
Van Assche E, Bonduelle M, Tournaye H, Joris H, Verheyen G, Devroey P, et al. Cytogenetics of infertile men. Hum Reprod. 1996;11(Suppl 4):1–24 discussion 5-6.
Fu L, Xiong DK, Ding XP, Li C, Zhang LY, Ding M, et al. Genetic screening for chromosomal abnormalities and Y chromosome microdeletions in Chinese infertile men. J Assist Reprod Genet. 2012;29(6):521–7.
Oliva R, Margarit E, Ballescá JL, Carrió A, Sánchez A, Milà M, et al. Prevalence of Y chromosome microdeletions in oligospermic and azoospermic candidates for intracytoplasmic sperm injection. Fertil Steril. 1998;70(3):506–10.
Oates RD, Silber S, Brown LG, Page DC. Clinical characterization of 42 oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children conceived via ICSI. Hum Reprod. 2002;17(11):2813–24.
Bojesen A, Juul S, Gravholt CH. Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab. 2003;88(2):622–6.
Rives N, Milazzo JP, Perdrix A, Castanet M, Joly-Hélas G, Sibert L, et al. The feasibility of fertility preservation in adolescents with Klinefelter syndrome. Hum Reprod. 2013;28(6):1468–79.
Samplaski MK, Lo KC, Grober ED, Millar A, Dimitromanolakis A, Jarvi KA. Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patients. Fertil Steril. 2014;101(4):950–5.
Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, Cordum HS, Waterston RH, et al. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet. 2001;29(3):279–86.
Kleiman SE, Almog R, Yogev L, Hauser R, Lehavi O, Paz G, et al. Screening for partial AZFa microdeletions in the Y chromosome of infertile men: is it of clinical relevance? Fertil Steril. 2012;98(1):43–7.
Stahl PJ, Masson P, Mielnik A, Marean MB, Schlegel PN, Paduch DA. A decade of experience emphasizes that testing for Y microdeletions is essential in American men with azoospermia and severe oligozoospermia. Fertil Steril. 2010;94(5):1753–6.
Repping S, Skaletsky H, Lange J, Silber S, Van Der Veen F, Oates RD, et al. Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am J Hum Genet. 2002;71(4):906–22.
Lin YW, Hsu LC, Kuo PL, Huang WJ, Chiang HS, Yeh SD, et al. Partial duplication at AZFc on the Y chromosome is a risk factor for impaired spermatogenesis in Han Chinese in Taiwan. Hum Mutat. 2007;28(5):486–94.
Giachini C, Laface I, Guarducci E, Balercia G, Forti G, Krausz C. Partial AZFc deletions and duplications: clinical correlates in the Italian population. Hum Genet. 2008;124(4):399–410.
Yang Y, Ma M, Li L, Su D, Chen P, Ma Y, et al. Differential effect of specific gr/gr deletion subtypes on spermatogenesis in the Chinese Han population. Int J Androl. 2010;33(5):745–54.
Ramasamy R, Ricci JA, Palermo GD, Gosden LV, Rosenwaks Z, Schlegel PN. Successful fertility treatment for Klinefelter's syndrome. J Urol. 2009;182(3):1108–13.
Okada H, Goda K, Yamamoto Y, Sofikitis N, Miyagawa I, Mio Y, et al. Age as a limiting factor for successful sperm retrieval in patients with nonmosaic Klinefelter's syndrome. Fertil Steril. 2005;84(6):1662–4.
Krausz C, Hoefsloot L, Simoni M, Tüttelmann F, Andrology EAo, network EMGQ. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013. Andrology. 2014;2(1):5–19.
Schlegel PN. Testicular sperm extraction: microdissection improves sperm yield with minimal tissue excision. Hum Reprod. 1999;14(1):131–5.
Coerdt W, Rehder H, Gausmann I, Johannisson R, Gropp A. Quantitative histology of human fetal testes in chromosomal disease. Pediatr Pathol. 1985;3(2–4):245–59.
Aksglaede L, Wikström AM, Rajpert-De Meyts E, Dunkel L, Skakkebaek NE, Juul A. Natural history of seminiferous tubule degeneration in Klinefelter syndrome. Hum Reprod Update. 2006;12(1):39–48.
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(2):714–9.
Rohayem J, Fricke R, Czeloth K, Mallidis C, Wistuba J, Krallmann C, et al. Age and markers of Leydig cell function, but not of Sertoli cell function predict the success of sperm retrieval in adolescents and adults with Klinefelter's syndrome. Andrology. 2015;3(5):868–75.
Koga M, Tsujimura A, Takeyama M, Kiuchi H, Takao T, Miyagawa Y, et al. Clinical comparison of successful and failed microdissection testicular sperm extraction in patients with nonmosaic Klinefelter syndrome. Urology. 2007;70(2):341–5.
Schiff JD, Palermo GD, Veeck LL, Goldstein M, Rosenwaks Z, Schlegel PN. Success of testicular sperm extraction [corrected] and intracytoplasmic sperm injection in men with Klinefelter syndrome. J Clin Endocrinol Metab. 2005;90(11):6263–7.
Navarro-Costa P, Gonçalves J, Plancha CE. The AZFc region of the Y chromosome: at the crossroads between genetic diversity and male infertility. Hum Reprod Update. 2010;16(5):525–42.
Bansal SK, Jaiswal D, Gupta N, Singh K, Dada R, Sankhwar SN, et al. Gr/gr deletions on Y-chromosome correlate with male infertility: an original study, meta-analyses, and trial sequential analyses. Sci Rep. 2016;6:19798.
de Carvalho CM, Zuccherato LW, Fujisawa M, Shirakawa T, Ribeiro-dos-Santos AK, Santos SE, et al. Study of AZFc partial deletion gr/gr in fertile and infertile Japanese males. J Hum Genet. 2006;51(9):794–9.
Wu B, Lu NX, Xia YK, Gu AH, Lu CC, Wang W, et al. A frequent Y chromosome b2/b3 subdeletion shows strong association with male infertility in Han-Chinese population. Hum Reprod. 2007;22(4):1107–13.
Yang Y, Ma M, Li L, Zhang W, Xiao C, Li S, et al. Evidence for the association of Y-chromosome haplogroups with susceptibility to spermatogenic failure in a Chinese Han population. J Med Genet. 2008;45(4):210–5.
Navarro-Costa P, Pereira L, Alves C, Gusmão L, Proença C, Marques-Vidal P, et al. Characterizing partial AZFc deletions of the Y chromosome with amplicon-specific sequence markers. BMC Genomics. 2007;8:342.
Zhang F, Lu C, Li Z, Xie P, Xia Y, Zhu X, et al. Partial deletions are associated with an increased risk of complete deletion in AZFc: a new insight into the role of partial AZFc deletions in male infertility. J Med Genet. 2007;44(7):437–44.
Repping S, van Daalen SK, Korver CM, Brown LG, Marszalek JD, Gianotten J, et al. A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region. Genomics. 2004;83(6):1046–52.
Krausz C, Quintana-Murci L, Forti G. Y chromosome polymorphisms in medicine. Ann Med. 2004;36(8):573–83.
Li LX, Dai HY, Ding XP, Zhang YP, Zhang XH, Ren HY, et al. Investigation of AZF microdeletions in patients with Klinefelter syndrome. Genet Mol Res. 2015;14(4):15140–7.
Corona G, Pizzocaro A, Lanfranco F, Garolla A, Pelliccione F, Vignozzi L, et al. Sperm recovery and ICSI outcomes in Klinefelter syndrome: a systematic review and meta-analysis. Hum Reprod Update. 2017;23(3):265–75.