Fertilität bei Patienten mit einem Klinefelter-Syndrom (47,XXY)
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Bakircioglu ME, Erden HF, Kaplancan T et al (2006) Aging may adversely affect testicular sperm recovery in patients with Klinefelter syndrome. Urologe 68:1082–1086
Bergère M, Wainer R, Nataf V et al (2002) Biopsied testis cells of four 47,XXY patients: fluorescence in-situ hybridization and ICSI results. Hum Reprod 17:32–37
Bojesen A, Juul S, Gravholt CH (2003) Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab 88:622–626
Carrel L, Willard HF (2005) X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 434:400–404
Ferhi K, Avakian R, Griveau JF, Guille F (2009) Age as only predictive factor for successful sperm recovery in patients with Klinefelter’s syndrome. Andrologia 41:84–87
Foresta C, Galeazzi C, Bettella A et al (1999) Analysis of meiosis in intratesticular germ cells from subjects affected by classic Klinefelter’s syndrome. J Clin Endocrinol Metab 84:3807–3810
Friedler S, Raziel A, Strassburger D et al (2001) Outcome of ICSI using fresh and cryopreserved-thawed testicular spermatozoa in patients with non-mosaic Klinefelter’s syndrome. Hum Reprod 16:2616–2620
Fullerton G, Hamilton M, Maheshwari M (2010) Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009? Hum Reprod 25:588–597
Greco E, Rienzi L, Ubaldi F, Tesarik J (2001) Klinefelter’s syndrome and assisted reproduction. Fertil Steril 76:1068-1069
Greco E, Iacobelli M, Rienzi L et al (2008) Birth of a healthy boy after fertilization of cyropreserved testicular spermatozoa from a man with nonmosaic Klinefelter syndrome. Fertil Steril 89:991.e5–991.e7
Ishikawa T, Yamaguchi K, Chiba K et al (2009) Serum hormones in patients with nonobstructive azoospermia after microdissection testicular sperm extraction. J Urol 182:1495–1499
Kamischke A, Baumbardt A, Horst J, Nieschlag E (2003) Clinical and diagnostic features of patients with suspected Klinefelter syndrome. J Androl 24:41–48
Kamischke A, Jürgens H, Hertle L et al (2004) Cryopreservation of sperm from adolescents and adults with malignancies. J Androl 25:586–592
Kleinheinz A, Schulze W (1994) Klinefelter’s syndrome: new and rapid diagnosis by PCR analysis of XIST gene expression. Andrologia 26:127–129
Kliesch S, Behre HM, Jürgens H, Nieschlag E (1996) Cryopreservation of semen from adolescent patients with malignancies. Med Pediatr Oncol 26:20–27
Klinefelter HF, Reifenstein EC, Albright F (1942) Syndrome characterized by gynecomastia, aspermatogenesis without A-Leydigism, and increased excretion of follicle-stimulating hormone. J Clin Enocrinol 2:615–627
Koga M, Tsujimura A, Takeyama M et al. (2007) Clinical comparison of successful and failed microdissection testicular sperm extraction in patients with nonmosaic Klinefelter syndrome. Urol 70:341–345
Komori S, Horiuchi I, Hamada Y et al. (2004) Birth of healthy neonates after intracytoplasmic injection of ejaculated or testicular spermatozoa from men with non-mosaic Klinefelter’s syndrome: a report of 2 cases. J Reprod Med 49:126-130
Kyono K, Fukunaga N, Haigo K et al (2001) Pregnancy achieved following ICSI from a man with Klinefelter’s syndrome and spinal cord injury. Hum Reprod 16:2347–2349
Kyono K, Uto H, Nakajo Y, Kumagai S et al (2007) Seven pregnancies and deliveries from non-mosaic Klinefelter syndrome patients using fresh and frozen testicular sperm. J Assist Reprod Genet 24:47-51
Lenz P, Luetjens CM, Kamischke A et al (2005) Mosaic status in lymphocytes of infertile men with or without Klinefelter’s syndrome. Hum Reprod 20:1248–1255
Levron J, Aviram-Golring A, Madgar I et al (2000) Sperm chromosome analysis and outcome of IVF patients with non-mosaic Klinefelter‘s syndrome. Fertil Steril 74:925–929
Madgar I, Dor J, Weissenber R, Raviv G et al (2002) Prognostic value of the clinical and laboratory evaluation in patients with nonmosaic Klinefelter syndrome who are receiving assisted reproductive therapy. Fertil Steril 77:1167–1169
Nodar F, De Vincentiis S, Olmed SB et al (1999) Birth of twin males with normal karyotype after intracytoplasmic sperm injection with use of teicular spermatozoa from a non-mosaic patient with Klinefelter’s syndrome. Fertil Steril 71:1149–1152
Okada H, Goda K, Muto S et al (2005a) Four pregnancies in nonmosaic Klinefelter‘s syndrome using cryopreserved-thawed testicular spermatozoa. Fertil Steril 84:1508
Okada H, Goda K, Yamamoto Y et al (2005b) Age as limiting factor for successful sperm retrieval in patients with nonmosaic Klinefelter’s syndrome. Fertil Steril 84:1662–1664
Paduch DA, Fine RG, Bolyakov A, Kiper J (2008) New concepts in Klinefelter syndrome. Curr Opinion Urol 18:651–627
Palermo GD, Schlegel PN, Sills ES et al (1998) Births after intracytoplasmic injection of sperm obtained by testicular extraction from men with nonmosaic Klinefelter’s syndrome. N Engl J Med 338:588–590
Poplinski A, Wieacker P, Kliesch S, Gromoll J (2010) Severe XIST hypomethylation clearly distinguishes (SRY+) 46,XX-maleness from Klinefelter syndrome. Eur J Endocrinol 162:169–175
Poulakis V, Witzsch U, Diehl W et al (2001) Birth of two infants with normal karyotype after intracytoplasmic injection of sperm obtained by testicular exraction from two men with nonmosaic Klinefelter’s syndrome. Fertil Steril 76:1060–1062
Ramasamy R, Ricci JA, Palermo GD et al (2009) Successful fertility treatment for Klinefelter’s syndrome. J Urol 182:1108–1113
Ramasamy R, Yagan N, Schlegel PN (2005) Structural and functional changes to the testis after conventional versus microdissection testicular sperm extraction. Urol 65:1190–1194
Reubinoff BE, Abeliovich A, Werner M et al (1998) A birth in non-mosaic Klinefelter’s syndrome after testicular fine needle aspiration, intracytoplasmic sperm injection and preimplantation genetic diagnosis. Hum Reprod 13:1887–1892
Ron-El R, Friedler S, Strassburger D et al (1999) Birth of a healthy neonate following the intracytoplasmatic injection of testicular spermatozoa from a patient with Klinefelter’s syndrome. Hum Reprod 14:368–370
Ron-El R, Raziel A, Strassburger D et al (2000b) Birth of healthy male twins after intracytoplasmic sperm injection of frozen-thawed testicular psermatozoa from a patient with non-mosaic Klinefelter syndrome. Fertil Steril 74:832–833
Ron-El R, Strassbuerger D, Gelman-Kohan S et al (2000a) A 47,XXY fetus conceived after ICSI of spermatozoa from a patient with non-mosaic Klinefelter’s syndrome: case report. Hum Reprod 15:1804–1806
Rosenlund B, Hreinsson JG, Hovatta O (2002) Birth of a healthy male after frozen thawed blastocyst transfer following intracytoplasmic injection of frozen thawed testicular spermatozoa from a man with non-mosaic Klinefelter’s syndrome. Horm Res 64:39-45
Schiff JD, Palermo GD, Veeck LL et al (2005) Success of testicular sperm injection and intracytoplasmic sperm injection in men with Klinefelter syndrome. J Clin Endocrinol Metab 90:6263–6267
Schlatt S, Ehmcke J, Jahnukainen K (2009) Testicular stem cells for fertility preservation: preclinical studies on male germ cell transplantation and testicular grafting. Pediatr Blood Cancer 53:274–280
Schlegel PN (2009) Nonobstructive azoospermia: a revolutionary surgical approach and results. Semin Reprod Med 27:165–170
Sciurano RB, Luna Hisano CV, Rahn MI et al (2009) Focal spermatogenesis originates in euploid germ cells in classical Klinefelter patients. Hum Reprod 24:2353–2360
Seo JT, Park YS, Lee JS (2004) Successful testicular sperm extraction in Korean Klinefelter syndrome. Urol 64:1208–1211
Staessen C, Coonen E, Van Assche E et al (1996) Preimplantation diagnosis for X and Y normality in embryos from three Klinefelter’s patients. Hum Reprod 11:1650–1653
Staessen C, Tournaye H, Van Assche E et al (2003) PGD in 47,XXY Klinefelter‘s syndrome patients. Hum Reprod Update 9:319–330
Takada S, Tsujimura A, Heda T et al (2008) Androgen decline in patients with nonobstructive azoospermia after microdissection testicular sperm extraction. J Urol 72:114–118
Tournaye H, Camus M, Vandervost M et al (1997) Surgical sperm retrieval for intracytoplasmic sperm injection. Int J Androl 20:69–73
Tournaye H, Staessen C, Libaers I et al (1996) Testicular sperm recovery in nine 47,XXY Klinefelter patients. Hum Reprod 11:1644–1649
Tüttelmann F, Werny F, Cooper TG et al (2010) Clinical experience with azoospermia: aetiology and chances for spermatozoa detection upon biopsy. Int J Androl (Epub ahead of print)
Vernaeve V, Staessen C, Verheyen G et al (2004) Can biological or clinical parameters predict testicular sprm recovery in 47,XXY Klinefelter’s syndrome patients? Hum Reprod Update 19:1135–1139
Vicdan K, Akarsu C, Vicdan A et al (2007) Births using frozen-thawed testicular spermatozoa and frozen-thawed embryos in two asoospermic patients with nonmosaic Klinefelter’s syndrome. J Turkish German Gynaecol Assoc Artemis 8:424–427
Westlander G, Ekerhovd E, Bergh C (2003) Low levels of serum inhibin B do not exclude successful sperm recovery in men with onmosaic Klinefelter syndrome. Fertil Stil 79:1680–1682
Wikström AM, Raivio T, Hadziselimovic F et al (2004) Klinefelter syndrome in adolescence: Onset of puberty is associated with accelerated germ cell depletion. J Clin Endocrinol Metab 89:2263–2270
Yamamoto Y, Sofikitis N, Mio Y et al (2002) Morphometric and cytogenetic characteristics of testicular germ cells and Sertoli cell secretory function in men with non-mosaic Klinefelter’s syndrome. Hum Reprod 17:886–896
Yarali H, Bozdag G (2006) An ongoing pregnancy after frozen thawed embryo transfer in a patient with Klinefelter’s syndrome. Gynecol Obstet Invest 62:165–167
Yarali H, Polat M, Bozdag G et al (2009) TESE-ICSI in patients with non-mosaic Klinefelter syndrome: a comparative study. Reprod BioMed Online 18:756–760
Zinn AR, Ramos P, Elder FF et al (2005) Androgen receptor CAGn repeat length influences phenotype of 47,XXY (Klinefelter) syndrome. J Clin Endocrinol Metab 90:5041–5046