Managing infertility in patients with Klinefelter syndrome

References

• Bojesen A. Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab 2003;88(2):622-6
   PubMed Web of Science ®Google Scholar
• Kamischke A, Baumgardt A, Horst J, Nieschlag E. Clinical and diagnostic features of patients with suspected Klinefelter syndrome. J Androl 2003;24(1):41-8
   Google Scholar
• Ratcliffe S. Long-term outcome in children of sex chromosome abnormalities. Arch Dis Child 1999;80(2):192-5
   Google Scholar
• Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E. Klinefelter’s syndrome. Lancet 2004;364:273-83
   PubMed Web of Science ®Google Scholar
• Bruining H, Swaab H, Kas M, van Engeland H. Psychiatric characteristics in a self-selected sample of boys with Klinefelter syndrome. Pediatrics 2009;123(5):865-70
   PubMed Web of Science ®Google Scholar
• Ross JL, Roeltgen DP, Kushner H, et al. Behavioral and social phenotypes in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome. Pediatrics 2012;129(4):769-78
   PubMed Web of Science ®Google Scholar
• Messina MF, Sgrò DL, Aversa T, et al. A characteristic cognitive and behavioral pattern as a clue to suspect Klinefelter syndrome in prepubertal age. J Am Board Fam Med 2012;25(5):745-9
   Google Scholar
• Tartaglia N, Cordeirio L, Howell S, et al. The Spectrum of the behavioral phenotype in boys and adolescents 47,XXY (Klinefelter syndrome). Pediatr Endocrinol Rev 2013;8:151-9
   Google Scholar
• Smyth C, Bremner W. Klinefelter syndrome. Am Med Assoc 1998;158:1309-14
   Google Scholar
• Groth KA, Skakkebæk A, Høst C, et al. Klinefelter syndrome–a clinical update. J Clin Endocrinol Metab 2013;98(1):20-30
   PubMed Web of Science ®Google Scholar
• Abdel-Razic MM, Abdel-Hamid IA, Elsobky E, El-Dahtory F. Further evidence of the clinical, hormonal, and genetic heterogeneity of Klinefelter syndrome: a study of 216 infertile Egyptian patients. J Androl 2012;33(3):441-8
   Google Scholar
• Bojesen A, Kristensen K, Birkebaek NH, et al. The metabolic syndrome is frequent in Klinefelter’s syndrome and is associated with abdominal obesity and hypogonadism. Diabetes Care 2006;29(7):1591-8
   Google Scholar
• Bojesen A, Juul S, Birkebaek NH, Gravholt CH. Morbidity in Klinefelter syndrome: a Danish register study based on hospital discharge diagnoses. J Clin Endocrinol Metab 2006;91(4):1254-60
   PubMed Web of Science ®Google Scholar
• van den Bergh J, Hermus A, Spruyt A, et al. Bone mineral density and quantitative ultrasound parameters in patients with Klinefelter’s syndrome after long-term testosterone substitution. Osteoporos Int 2001;12:55-62
   Google Scholar
• Bojesen A, Birkebæk N, Kristensen K, et al. Bone mineral density in Klinefelter syndrome is reduced and primarily determined by muscle strength and resorptive markers, but not directly by testosterone. Osteoporos Int 2011;22:1441-50
   Google Scholar
• 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
   Google Scholar
• 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(12):6208-17
   PubMed Web of Science ®Google Scholar
• Zinn AR, Ramos P, Elder FF, et al. Androgen receptor CAGn repeat length influences phenotype of 47,XXY (Klinefelter) syndrome. J Clin Endocrinol Metab 2005;90(9):5041-6
   PubMed Web of Science ®Google Scholar
• 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(6):793-806
   PubMed Web of Science ®Google Scholar
• Ross J, Samango-Spouse C, Lahlou N, et al. Early androgen deficiency in infants and young boys with 47,XXY Klinefelter syndrome. Horm Res 2005;64:39-45
   PubMedGoogle Scholar
• Zeger MP, Zinn AR, Lahlou N, et al. Effect of ascertainment and genetic features on the phenotype of Klinefelter syndrome. J Pediatr 2008;152(5):716-22
   Google Scholar
• Wikström AM, Raivio T, Hadziselimovic F, et al. Klinefelter Syndrome in Adolescence: onset of Puberty Is Associated with Accelerated Germ Cell Depletion. J Clin Endocrinol Metab 2004;89(5):2263-70
   PubMed Web of Science ®Google Scholar
• Wikström AM, Dunkel L. Testicular Function in Klinefelter Syndrome. Horm Res 2008;69:317-26
   PubMedGoogle Scholar
• Swerdloff RS, Lue Y, Liu PY, et al. Mouse model for men with klinefelter syndrome: a multifaceted fit for a complex disorder. Acta Paediatr 2011;100(6):892-9
   Google Scholar
• Werler S, Demond H, Damm OS, et al. Germ cell loss is associated with fading Lin28 expression in a mouse model for Klinefelter syndrome. Reproduction 2014;147(3):253-64
   Google Scholar
• Hunt PA, Worthman C, Levinson H, et al. Germ cell loss in the XXY male mouse: altered X-chromosome dosage affects prenatal development. Mol Reprod Dev 1998;49(2):101-11
   PubMed Web of Science ®Google Scholar
• Cabrol S, Ross JL, Fennoy I, et al. 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(4):746-53
   Google Scholar
• Aksglaede L, Link K, Giwercman A, et al. 47, XXY Klinefelter syndrome: clinical characteristics and age-specific recommendations for medical management. Am J Med Gen C Semin Med Genet 2013;163C:55-63
   PubMed Web of Science ®Google Scholar
• Aksglaede L, Juul A. Testicular function and fertility in men with Klinefelter syndrome: a review. Eur J Endocrinol 2013;168(4):R67-76
   PubMed Web of Science ®Google Scholar
• Aksglaede L, Petersen JH, Main KM, et al. High normal testosterone levels in infants with non-mosaic Klinefelter’s syndrome. Eur J Endocrinol 2007;157(3):345-50
   Google Scholar
• Lahlou N, Inhibin B. Anti-mullerian hormone, but not testosterone levels, are normal in infants with nonmosaic Klinefelter syndrome. J Clin Endocrinol Metab 2004;89(4):1864-8
   Google Scholar
• Aksglaede L, Skakkebaek 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. J Clin Endocrinol Metab 2008;93(1):169-76
   PubMed Web of Science ®Google Scholar
• Aksglaede L, Christiansen P, Sørensen K, et al. Serum concentrations of Anti-Müllerian Hormone (AMH) in 95 patients with Klinefelter syndrome with or without cryptorchidism. Acta Paediatr 2011;100(6):839-45
   Google Scholar
• Wikström AM, Dunkel L, Wickman S, et al. Are adolescent boys with Klinefelter syndrome androgen deficient? A longitudinal study of Finnish 47,XXY boys. Pediatr Res 2006;59(6):854-9
   Google Scholar
• Andersson A-M, Petersen JH, Jørgensen N, et al. Serum inhibin B and follicle-stimulating hormone levels as tools in the evaluation of infertile men: significance of adequate reference values from proven fertile men. J Clin Endocrinol Metab 2004;89(6):2873-9
   Google Scholar
• Bastida MG, Rey RA, Bergadá I, et al. Establishment of testicular endocrine function impairment during childhood and puberty in boys with Klinefelter syndrome. Clin Endocrinol 2007;67(6):863-70
   PubMed Web of Science ®Google Scholar
• Forti G, Corona G, Vignozzi L, et al. Klinefelter’s syndrome: a clinical and therapeutical update. Sex Dev 2010;4:249-58
   PubMedGoogle Scholar
• Vignozzi L, Corona G, Forti G, et al. Clinical and therapeutic aspects of Klinefelter’s syndrome: sexual function. Mol Hum Reprod 2010;16(6):418-24
   Google Scholar
• Corona G, Mannucci E, Forti G, Maggi M. Hypogonadism, ED, metabolic syndrome and obesity: a pathological link supporting cardiovascular diseases. Int J Androl 2009;32(6):587-98
   Google Scholar
• Wosnitzer MS, Paduch DA. Endocrinological issues and hormonal manipulation in children and men with Klinefelter syndrome. Am J Med Gen C Semin Med Genet 2013;163(1):16-26
   Google Scholar
• Wang C, Swerdloff RS, Iranmanesh ALI, et al. Transdermal testosterone gel improves sexual function, mood, muscle strength, and body composition parameters in hypogonadal men. J Clin Endocrinol Metab 2000;85(8):2839-53
   PubMed Web of Science ®Google Scholar
• McLachlan RI, Donnell LO, Stanton PG, et al. Effects of testosterone plus medroxyprogesterone acetate on semen quality, reproductive hormones, and germ cell populations in normal young men. J Clin Endocrinol Metab 2002;87(2):546-56
   Google Scholar
• Soufir J-C, Meduri G, Ziyyat A. Spermatogenetic inhibition in men taking a combination of oral medroxyprogesterone acetate and percutaneous testosterone as a male contraceptive method. Hum Reprod 2011;26(7):1708-14
   Google Scholar
• Terzoli G, Lattata F AL. Fertility in a 47,XXY patient: assessment of biological paternity by deoxyribonucleic acid fingerprinting. Fertil Steril 1992;58:821-2
   PubMed Web of Science ®Google Scholar
• Laron Z, Dickerman Z, Zamir R, Galatzer A. Paternity in Klinefelter’s syndrome–a case report. Arch Androl 1982;8:149-51
   PubMed Web of Science ®Google Scholar
• Warburg E. A fertile patient with Klinefelter’s syndrome. Acta Endocrinol 1963;43:12-26
   Google Scholar
• Tournaye H, Staessen C, Liebaers I, et al. Testicular sperm recovery in nine 47,XXY Klinefelter patients. Hum Reprod 1996;11(8):1644-9
   PubMed Web of Science ®Google Scholar
• Reubinoff BE, Abeliovich D, Werner M, et al. A birth in non-mosaic Klinefelter's syndrome after testicular fine needle aspiration, intracytoplasmic sperm injection and preimplantation genetic diagnosis. Hum Reprod 1998;13(7):1887-92
   PubMed Web of Science ®Google Scholar
• Levron J, Aviram-Goldring A, Madgar I, et al. Sperm chromosome analysis and outcome of IVF in patients with non-mosaic Klinefelter’s syndrome. Fertil Steril 2000;74(5):925-9
   PubMed Web of Science ®Google Scholar
• Friedler S, Raziel A, Strassburger D, et al. Outcome of ICSI using fresh and cryopreserved – thawed testicular spermatozoa in patients with non-mosaic Klinefelter's syndrome. Hum Reprod 2001;16(12):2616-20
   PubMed Web of Science ®Google Scholar
• Madgar I, Dor J, Weissenberg R, et al. Prognostic value of the clinical and laboratory evaluation in patients with nonmosaic Klinefelter syndrome who are receiving assisted reproductive therapy. Fertil Steril 2002;77(6):1167-9
   PubMed Web of Science ®Google Scholar
• Yamamoto Y, Sofikitis N, Kaponis A, et al. Use of a highly sensitive quantitative telomerase assay in intracytoplasmic sperm injection programmes for the treatment of 47,XXY non-mosaic Klinefelter men. Andrologia 2002;34(4):218-26
   Google Scholar
• Westlander G, Ekerhovd E, Bergh C. Low levels of serum inhibin B do not exclude successful sperm recovery in men with nonmosaic Klinefelter syndrome. Fertil Steril 2003;79:1680-2
   PubMedGoogle Scholar
• Ulug U, Bener F, Akman MA, Bahceci M. Partners of men with Klinefelter syndrome can benefit from assisted reproductive technologies. Fertil Steril 2003;80(4):903-6
   Google Scholar
• Vernaeve V, Staessen C, Verheyen G, et al. Can biological or clinical parameters predict testicular sperm recovery in 47,XXY Klinefelter’s syndrome patients? Hum Reprod 2004;19(5):1135-9
   PubMed Web of Science ®Google Scholar
• 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(6):1662-4
   Google Scholar
• Kyono K, Uto H, Nakajo Y, et al. Seven pregnancies and deliveries from non-mosaic Klinefelter syndrome patients using fresh and frozen testicular sperm. J Assist Reprod Genet 2007;24(1):47-51
   Google Scholar
• Ferhi K, Avakian R, Griveau J-F, Guille F. Age as only predictive factor for successful sperm recovery in patients with Klinefelter’s syndrome. Andrologia 2009;41(2):84-7
   Google Scholar
• Selice R, Di Mambro A, Garolla A, et al. Spermatogenesis in Klinefelter syndrome. J Endocrinol Invest 2010;33:789-93
   Google Scholar
• Ishikawa T. Surgical recovery of sperm in non-obstructive azoospermia. Asian J Androl 2012;14(1):109-15
   Google Scholar
• Okada H, Goda K, Muto S, et al. Four pregnancies in nonmosaic Klinefelter’s syndrome using cryopreserved-thawed testicular spermatozoa. Fertil Steril 2005;84(5):1508
   Google Scholar
• Bakircioglu ME, Erden HF, Kaplancan T, et al. Aging may adversely affect testicular sperm recovery in patients with Klinefelter syndrome. Urology 2006;68(5):1082-6
   Google Scholar
• Koga M, Tsujimura A, Takeyama M, et al. Clinical Comparison of successful and failed microdissection testicular sperm extraction in patients with nonmosaic Klinefelter syndrome. Urology 2007;70(2):341-5
   Google Scholar
• Ramasamy R, Ricci JA, Palermo GD, et al. Successful Fertility Treatment for Klinefelter’s Syndrome. J Urol 2009;182(3):1108-13
   PubMed Web of Science ®Google Scholar
• Yarali H, Polat M, Bozdag G, et al. TESE–ICSI in patients with non-mosaic Klinefelter syndrome: a comparative study. Reprod Biomed Online 2009;18(6):756-60
   Google Scholar
• Bakircioglu ME, Ulug U, Erden HF, et al. Klinefelter syndrome: does it confer a bad prognosis in treatment of nonobstructive azoospermia? Fertil Steril 2011;95(5):1696-9
   Google Scholar
• Ramasamy R, Yagan N, Schlegel PN. Structural and functional changes to the testis after conventional versus microdissection testicular sperm extraction. Urology 2005;65(6):1190-4
   PubMed Web of Science ®Google Scholar
• Ishikawa T, Yamaguchi K, Chiba K, et al. Serum hormones in patients with nonobstructive azoospermia after microdissection testicular sperm extraction. J Urol 2009;182(4):1495-9
   Google Scholar
• Takada S, Tsujimura A, Ueda T, et al. Androgen decline in patients with nonobstructive azoospemia after microdissection testicular sperm extraction. Urology 2008;72(1):114-18
   Google Scholar
• Komori K, Tsujimura A, Miura H, et al. Serial follow-up study of serum testosterone and antisperm antibodies in patients with non-obstructive azoospermia after conventional or microdissection testicular sperm extraction. Int J Androl 2004;27(1):32-6
   Google Scholar
• Okada H, Shirakawa T, Ishikawa T, et al. Serum testosterone levels in patients with nonmosaic Klinefelter syndrome after testicular sperm extraction for intracytoplasmic sperm injection. Fertil Steril 2004;82(1):237-8
   Google Scholar
• Westlander G, Ekerhovd E, Granberg S, et al. Testicular ultrasonography and extended chromosome analysis in men with nonmosaic Klinefelter syndrome: a prospective study of possible predictive factors for successful sperm recovery. Fertil Steril 2001;75(6):1102-5
   Google Scholar
• Staessen C. PGD in 47,XXY Klinefelter’s syndrome patients. Hum Reprod Update 2003;9(4):319-30
   Google Scholar
• Morel F, Bernicot I, Herry A, et al. An increased incidence of autosomal aneuploidies in spermatozoa from a patient with Klinefelter’s syndrome. Fertil Steril 2003;79:1644-6
   PubMed Web of Science ®Google Scholar
• Foresta C, Galeazzi C, Bettella A, et al. Analysis of meiosis in intratesticular germ cells from subjects affected by classic Klinefelter’ s syndrome. J Clin Endocrinol Metab 1999;84(10):3807-10
   PubMed Web of Science ®Google Scholar
• Yamamoto Y, Sofikitis N, Mio Y, et al. Morphometric and cytogenetic characteristics of testicular germ cells and Sertoli cell secretory function in men with non-mosaic Klinefelter's syndrome. Hum Reprod 2002;17(4):886-96
   PubMed Web of Science ®Google Scholar
• Ferlin A, Garolla A, Foresta C. Chromosome abnormalities in sperm of individuals with constitutional sex chromosomal abnormalities. Cytogenet Genome Res 2005;111:310-16
   PubMed Web of Science ®Google Scholar
• Skakkebaek N, Philip J, Hammen R. Meiotic chromosomes in Klinefelter’s syndrome. Nature 1969;221:1075-6
   Google Scholar
• Blanco J, Egozcue J, Vidal F, et al. Meiotic behaviour of the sex chromosomes in three patients with sex chromosome anomalies (47,XXY,mosaic 46,XY/47,XXY and 47,XYY) assessed by fluorescence in-situ hybridization. Hum Reprod 2001;16(5):887-92
   Google Scholar
• Bergère M, Wainer R, Nataf V, et al. Biopsied testis cells of four 47,XXY patients: fluorescence in-situ hybridization and ICSI results. Hum Genet 2002;17(1):32-7
   Google Scholar
• Sciurano RB, Luna Hisano CV, Rahn MI, et al. Focal spermatogenesis originates in euploid germ cells in classical Klinefelter patients. Hum Reprod 2009;24(9):2353-60
   PubMed Web of Science ®Google Scholar
• Mroz K, Hassold TJ, Hunt PA. Meiotic aneuploidy in the XXY mouse: evidence that a compromised testicular environment increases the incidence of meiotic errors. Hum Reprod 1999;14(5):1151-6
   Google Scholar
• Metha A, Paduch D. Klinefelter syndrome: an argument for early aggressive hormonal and fertility management. Fertil Steril 2012;98(5):e25
   Google Scholar
• Hennebicq S, Pelletier R, Bergues U, Rousseaux S. Risk of trisomy 21 in offspring of patients with Klinefelter’s syndrome. Lancet 2001;357:2104-5
   Google Scholar
• Rives N, Leclerc P, Mace B, et al. Assessment of sex chromosome aneuploidy in sperm nuclei from 47, XXY and 46, XY/ 47, XXY males: comparison with fertile and infertile males with normal karyotype. Mol Hum Reprod 2000;6(2):107-12
   PubMed Web of Science ®Google Scholar
• Guttenbach M, Michelmann H, Hinney B, et al. Segregation of sex chromosomes into sperm nuclei in a man with 47,XXY Klinefelter’s karyotype: a FISH analysis. Hum Genet 1997;99:474-7
   Google Scholar
• Foresta C, Galeazzi C, Bettella A, et al. High incidence of sperm sex chromosomes aneuploidies in two patients with Klinefelter ’s syndrome. J Clin Endocrinol Metab 1998;83(1):203-5
   Google Scholar
• Estop AM, Munne S, Cieply M, et al. Meiotic products of a Klinefelter 47, XXY male as determined by sperm fluorescence in-situ hybridization analysis. Hum Reprod 1998;13(1):124-7
   Google Scholar
• Kahraman S, Findikli N, Berkil H, et al. Results of preimplantation genetic diagnosis in patients with Klinefelter’s syndrome. Reprod Biomed Online 2003;7:346-52
   Google Scholar
• Martin RH. Mechanisms of nondisjunction in human spermatogenesis. Cytogenet Genome Res 2005;111:245-9
   PubMed Web of Science ®Google Scholar
• Mroz K, Carrel L, Hunt PA. Germ cell development in the XXY mouse: evidence that X chromosome reactivation is independent of sexual differentiation. Dev Biol 1999;207(1):229-38
   PubMed Web of Science ®Google Scholar
• Schiff JD, Palermo GD, Veeck LL, et al. Success of testicular sperm extraction [corrected] and intracytoplasmic sperm injection in men with Klinefelter syndrome. J Clin Endocrinol Metab 2005;90(11):6263-7
   PubMed Web of Science ®Google Scholar
• Van Saen D, Tournaye H, Goossens E. Presence of spermatogonia in 47,XXY men with no spermatozoa recovered after testicular sperm extraction. Fertil Steril 2012;97(2):319-23
   Google Scholar
• Sadri-Ardekani H, SC M, SM van D, Al E. Propagation of human spermatogonial stem cells in vitro. JAMA 2009;302(19):2127-34
   PubMed Web of Science ®Google Scholar
• Sadri-Ardekani H, MA A, F van der V, et al. In vitro propagation of human prepubertal spermatogonial stem cells. JAMA 2011;305(23):2416-18
   PubMed Web of Science ®Google Scholar
• Goossens E, Van Saen D, Tournaye H. Spermatogonial stem cell preservation and transplantation: from research to clinic. Hum Reprod 2013;28:897-907
   PubMed Web of Science ®Google Scholar
• Gies I, De Schepper J, Van Saen D, et al. Failure of a combined clinical- and hormonal-based strategy to detect early spermatogenesis and retrieve spermatogonial stem cells in 47,XXY boys by single testicular biopsy. Hum Reprod 2012;27(4):998-1004
   PubMed Web of Science ®Google Scholar
• Van Saen D, Gies I, De Schepper J, et al. Can pubertal boys with Klinefelter syndrome benefit from spermatogonial stem cell banking? Hum Reprod 2012;27(2):323-30
   Google Scholar
• Steinberger E, Smith KD, Perloff WH. Spermatogenesis in Klinefelter’s Syndrome. J Clin Endocrinol Metab 1965;25:1325-30
   Google Scholar
• Futterweit W. Spermatozoa in seminal fluid of a patient with Klinefelter’s syndrome. Fertil Steril 1967;18:492-6
   Google Scholar
• Foss GL. A study of four cases with Klinefelter’s syndrome, showing motile spermatozoa in their ejaculates. J Reprod Fertil 1971;25(3):401-8
   Google Scholar
• Tournaye H, Camus M, Vandervost M, et al. Surgical sperm retrieval for intracytoplasmic sperm injection. Int J Androl 1997;3:69-73
   Google Scholar
• Aksglaede L, Jørgensen N, Skakkebæk 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(4):376-84
   Google Scholar
• Damani MN, Mittal R, Oates RD. Testicular tissue extraction in a young male with 47,XXY klinefelter’s syndrome: potential strategy for preservation of fertility. Fertil Steril 2001;76(5):1054-6
   PubMed Web of Science ®Google Scholar
• Rives N, Milazzo J, Perdrix A, et al. The feasibility of fertility preservation in adolescents with Klinefelter syndrome. Hum Reprod 2013;28(3):1468-79
   Google Scholar