Is it useful to modify the care of Klinefelter's syndrome to improve the chances of paternity?;Faut-il modifier la prise en charge du syndrome de Klinefelter pour améliorer les chances de paternité?

Annales d'Endocrinologie

Volumn 71, Issue 6, 2010, Pages 494-504

  Plotton, I ^a,b   Brosse, A ^a   Lejeune, H ^a,b  

^a HOSPICES CIVILS DE LYON   (France)

^b UNIVERSITÉ LYON 1   (France)

Author keywords

Androgenotherapy; Assisted reproductive technology; Fertility preservation; Klinefelter syndrome; Male infertility

Indexed keywords

ANDROGEN; GONADOTROPIN DERIVATIVE;

ANDROGEN THERAPY; ANEUPLOIDY; CLONE; CRYOPRESERVATION; HUMAN; INTRACYTOPLASMIC SPERM INJECTION; KARYOTYPE 47,XXY; KLINEFELTER SYNDROME; MALE; MALE INFERTILITY; MALE STERILITY; PATERNITY; PATHOPHYSIOLOGY; PATIENT CARE; PREGNANCY RATE; REVIEW; RISK ASSESSMENT; SPERM PRESERVATION; SPERMATOGENESIS; SPERMATOGONIUM; SPERMATOZOON; SURVIVAL RATE; TESTICULAR SPERM EXTRACTION;

ADOLESCENT; ADULT; FEMALE; HUMANS; INFERTILITY, MALE; KLINEFELTER SYNDROME; MALE; PATERNITY; PREGNANCY; REPRODUCTIVE TECHNIQUES, ASSISTED; SPERM INJECTIONS, INTRACYTOPLASMIC; SPERMATOGENESIS; TREATMENT OUTCOME;

EID: 78650168915     PISSN: 00034266     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ando.2010.06.001     Document Type: Review

References (85)

1. Klinefelter H.F., Albright F. Syndrome characterized by gynecomastia aspermatogenes without A-Leydigism and increased excretion of follicle stimulating hormone. J Clin Endocrinol Metab 1942, 2:615-627.
2. Jacobs P.A., Strong J.A. A case of human intersexuality having a possible XXY sex-determining mechanism. Nature 1959, 183:302-303.
3. Bojesen A., Gravholt C.H., Klinefelter Syndrome in clinical practice. Nat Clin Pract Urol 2007, 4:192-204.
4. Lanfranco F., Kamischke A., Zitzmann M., Nieschlag E. Klinefelter's syndrome. Lancet 2004, 364:273-283.
5. Ravel C., Berthaut I., Siffroi JP Prevalence of chromosomal abnormalities in phenotypically normal and fertile adult males: large-scale survey of over 10000 sperm donor karyotypes. Hum Reprod 2006, 21:1484-1489. the Genetics Commission of the French Federation of CECOS.
6. Palermo G., Joris H., Devroey P., Van Steirteghem A.C. Pregnancies after intracytoplasmic injection of single spermatozoon into an oocyte. Lancet 1992, 340:17-18.
7. Devroey P., Liu J., Nagy Z., Goossens A., Tournaye H., Camus M., et al. Pregnancies after testicular sperm extraction and intracytoplasmic sperm injection in non-obstructive azoospermia. Hum Reprod 1995, 10:1457-1460.
8. Ramasamy K., Hayden J., Lim Z., Mufti G.J., Ho A.Y. Successful pregnancies involving men with chronic myeloid leukaemia on imatinib therapy. Br J Haematol 2007, 137:374-375.
9. Nicopoullos J.D., Gilling-Smith C., Almeida P.A., Norman-Taylor J., Grace I., Ramsay J.W. Use of surgical sperm retrieval in azoospermic men: a meta-analysis. Fertil Steril 2004, 82:691-701.
10. Tournaye H., Staessen C., Liebaers I. Van Assche E, Devroey P, Bonduelle M et al. Testicular sperm recovery in nine 47,XXY Klinefelter patients. Hum Reprod 1996, 11:1644-1649.
11. Geschwind D.H., Boone K.B., Miller B.L., Swerdloff R.S. Neurobehavioral phenotype of Klinefelter syndrome. Ment Retard Dev Disabil Res Rev 2000, 6:107-116.
12. Ratcliffe S. Long-term outcome in children of sex chromosome abnormalities. Arch Dis Child 1999, 80:192-195.
13. Bojesen A., Juul S., Gravholt C.H. Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab 2003, 88:622-626.
14. Zeger M.P., Zinn A.R., Lahlou N., Ramos P., Kowal K., Samango-Sprouse C., et al. Effect of ascertainment and genetic features on the phenotype of Klinefelter syndrome. J Pediatr 2008, 152:716-722.
15. Salbenblatt J.A., Bender B.G., Puck M.H., Robinson A., Faiman C., Winter J.S. Pituitary-gonadal function in Klinefelter syndrome before and during puberty. Pediatr Res 1985, 19:82-86.
16. Abramsky L., Chapple J. 47,XXY (Klinefelter syndrome) and 47,XYY: estimated rates of and indication for postnatal diagnosis with implications for prenatal counselling. Prenat Diagn 1997, 17:363-368.
17. Kitamura M., Matsumiya K., Koga M., Nishimura K., Miura H., Tsuji T., et al. Ejaculated spermatozoa in patients with non-mosaic Klinefelter's syndrome. Int J Urol 2000, 7:88-92. [discussion 93-94].
18. Aksglaede L., Jorgensen N., Skakkebaek N.E., Juul A. Low semen volume in 47 adolescents and adults with 47,XXY Klinefelter or 46,XX male syndrome. Int J Androl 2008, 32:376-384.
19. Laron Z., Dickerman Z., Zamir R., Galatzer A. Paternity in Klinefelter's syndrome-a case report. Arch Androl 1982, 8:149-151.
20. Terzoli G., Lalatta F., Lobbiani A., Simoni G., Colucci G. Fertility in a 47,XXY patient: assessment of biological paternity by deoxyribonucleic acid fingerprinting. Fertil Steril 1992, 58:821-822.
21. Emre Bakircioglu M., Erden H.F., Kaplancan T., Ciray N., Bener F., Bahceci M. Aging may adversely affect testicular sperm recovery in patients with Klinefelter syndrome. Urology 2006, 68:1082-1086.
22. Kyono K., Uto H., Nakajo Y., Kumagai S., Araki Y., Kanto S. Seven pregnancies and deliveries from non-mosaic Klinefelter syndrome patients using fresh and frozen testicular sperm. J Assist Reprod Genet 2007, 24:47-51.
23. 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, 84:1662-1664.
24. Ramasamy R., Ricci J.A., Palermo G.D., Gosden L.V., Rosenwaks Z., Schlegel Successful fertility treatment for Klinefelter's syndrome. J Urol 2009, 182:1108-1113.
25. Vernaeve V., Staessen C., Verheyen G., Van Steirteghem A., Devroey P., Tournaye H. Can biological or clinical parameters predict testicular sperm recovery in 47,XXY Klinefelter's syndrome patients?. Hum Reprod 2004, 19:1135-1139.
26. Friedler S., Raziel A., Strassburger D., Schachter M., Bern O., Ron-El R. Outcome of ICSI using fresh and cryopreserved-thawed testicular spermatozoa in patients with non-mosaic Klinefelter's syndrome. Hum Reprod 2001, 16:2616-2620.
27. Madgar I., Dor J., Weissenberg R., Raviv G., Menashe Y., Levron J. Prognostic value of the clinical and laboratory evaluation in patients with nonmosaic Klinefelter syndrome who are receiving assisted reproductive therapy. Fertil Steril 2002, 77:1167-1169.
28. Seo J.T., Park Y.S., Lee J.S. Successful testicular sperm extraction in Korean Klinefelter syndrome. Urology 2004, 64:1208-1211.
29. Westlander G., Ekerhovd E., Granberg S., Hanson L., Hanson C., Bergh C. 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, 75:1102-1105.
30. Craft I., Bennett V., Nicholson N. Fertilising ability of testicular spermatozoa. Lancet 1993, 342:864.
31. Schoysman R., Segal L., Van Der Zwalmen P., Nijs M., Bertin G., Cittadini E., et al. Assisted fertilization with epididymal spermatozoa. Acta Eur Fertil 1993, 24:7-12.
32. Schoysman R., Vanderzwalmen P., Nijs M., Segal-Bertin G., Van de Casseye M. Successful fertilization by testicular spermatozoa in an in-vitro fertilization programme. Hum Reprod 1993, 8:1339-1340.
33. Devroey P., Silber S., Nagy Z., Liu J., Tournaye H., Joris H., et al. Ongoing pregnancies and birth after intracytoplasmic sperm injection with frozen-thawed epididymal spermatozoa. Hum Reprod 1995, 10:903-906.
34. Mansour R.T., Aboulghar M.A., Serour G.I., Fahmi I., Ramzy A.M., Amin Y. Intracytoplasmic sperm injection using microsurgically retrieved epididymal and testicular sperm. Fertil Steril 1996, 65:566-572.
35. Silber S.J., Nagy Z., Liu J., Tournaye H., Lissens W., Ferec C., et al. The use of epididymal and testicular spermatozoa for intracytoplasmic sperm injection: the genetic implications for male infertility. Hum Reprod 1995, 10:2031-2043.
36. Hauser R., Botchan A., Amit A., Ben Yosef D., Gamzu R., Paz G., et al. Multiple testicular sampling in non-obstructive azoospermia-is it necessary?. Hum Reprod 1998, 13:3081-3085.
37. Ostad M., Liotta D., Ye Z., Schlegel P.N. Testicular sperm extraction for nonobstructive azoospermia: results of a multibiopsy approach with optimized tissue dispersion. Urology 1998, 52:692-696.
38. Tournaye H., Camus M., Goossens A., Liu J., Nagy P., Silber S., et al. Recent concepts in the management of infertility because of non-obstructive azoospermia. Hum Reprod 1995, 10(Suppl. 1):115-119.
39. Ezeh U.I., Moore H.D., Cooke I.D. A prospective study of multiple needle biopsies versus a single open biopsy for testicular sperm extraction in men with non-obstructive azoospermia. Hum Reprod 1998, 13:3075-3080.
40. Friedler S., Raziel A., Strassburger D., Soffer Y., Komarovsky D., Ron-El R. Testicular sperm retrieval by percutaneous fine needle sperm aspiration compared with testicular sperm extraction by open biopsy in men with non-obstructive azoospermia. Hum Reprod 1997, 12:1488-1493.
41. Rosenlund B., Kvist U., Ploen L., Rozell B.L., Sjoblom P., Hillensjo T. A comparison between open and percutaneous needle biopsies in men with azoospermia. Hum Reprod 1998, 13:1266-1271.
42. Schlegel P.N. Testicular sperm extraction: microdissection improves sperm yield with minimal tissue excision. Hum Reprod 1999, 14:131-135.
43. Schiff J.D., Palermo G.D., Veeck L.L., Goldstein M., Rosenwaks Z., Schlegel P.N. Success of testicular sperm extraction [corrected] and intracytoplasmic sperm injection in men with Klinefelter syndrome. J Clin Endocrinol Metab 2005, 90:6263-6267.
44. Gonsalves J., Turek P.J., Schlegel P.N., Hopps C.V., Weier J.F., Pera R.A. Recombination in men with Klinefelter syndrome. Reproduction 2005, 130:223-229.
45. Sciurano R.B., Luna Hisano C.V., Rahn M.I., Brugo Olmedo S., Rey Valzacchi G., Coco R., et al. Focal spermatogenesis originates in euploid germ cells in classical Klinefelter patients. Hum Reprod 2009, 24:2353-2360.
46. Foresta C., Galeazzi C., Bettella A., Stella M., Scandellari C. High incidence of sperm sex chromosomes aneuploidies in two patients with Klinefelter's syndrome. J Clin Endocrinol Metab 1998, 83:203-205.
47. Gonzalez-Merino E., Hans C., Abramowicz M., Englert Y., Emiliani S. Aneuploidy study in sperm and preimplantation embryos from nonmosaic 47,XYY men. Fertil Steril 2007, 88:600-606.
48. Estop A.M., Munne S., Cieply K.M., Vandermark K.K., Lamb A.N., Fisch H. Meiotic products of a Klinefelter 47,XXY male as determined by sperm fluorescence in-situ hybridization analysis. Hum Reprod 1998, 13:124-127.
49. Foresta C., Galeazzi C., Bettella A., Marin P., Rossato M., Garolla A., et al. Analysis of meiosis in intratesticular germ cells from subjects affected by classic Klinefelter's syndrome. J Clin Endocrinol Metab 1999, 84:3807-3810.
50. Bergere M., Wainer R., Nataf V., Bailly M., Gombault M., Ville Y., et al. Biopsied testis cells of four 47,XXY patients: fluorescence in-situ hybridization and ICSI results. Hum Reprod 2002, 17:32-37.
51. Mikamo K., Aguercif M., Hazeghi P., Martin-Du Pan R. Chromatin-positive Klinefelter's syndrome. A quantitative analysis of spermatogonial deficiency at 3, 4, and 12 months of age. Fertil Steril 1968, 19:731-739.
52. Muller J., Skakkebaek N.E., Ratcliffe S.G. Quantified testicular histology in boys with sex chromosome abnormalities. Int J Androl 1995, 18:57-62.
53. Wikstrom A.M., Raivio T., Hadziselimovic F., Wikstrom S., Tuuri T., Dunkel L. Klinefelter syndrome in adolescence: onset of puberty is associated with accelerated germ cell depletion. J Clin Endocrinol Metab 2004, 89:2263-2270.
54. Lue Y., Rao P.N., Sinha Hikim A.P., Im M., Salameh W.A., Yen P.H., et al. XXY male mice: an experimental model for Klinefelter syndrome. Endocrinology 2001, 142:1461-1470.
55. Mroz K., Hassold T.J., Hunt P.A. Meiotic aneuploidy in the XXY mouse: evidence that a compromised testicular environment increases the incidence of meiotic errors. Hum Reprod 1998, 14:1151-1156.
56. Blanco J., Egozcue J., Vidal F. 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, 16:887-892.
57. Yamamoto Y., Sofikitis N., Mio Y., Loutradis D., Kaponis A., Miyagawa I. Morphometric and cytogenetic characteristics of testicular germ cells and Sertoli cell secretory function in men with non-mosaic Klinefelter's syndrome. Hum Reprod 2002, 17:886-896.
58. Hunt P.A., Worthman C., Levinson H., Stallings J., LeMaire R., Mroz K., et al. Germ cell loss in the XXY male mouse: altered X-chromosome dosage affects prenatal development. Mol Reprod Dev 1998, 49:101-111.
59. Rives N., Joly G., Machy A., Leclerc P., Macé B. Assessment of sex chromosome aneuploidy in sperm nuclei from 47,XXY and 46,XY/47,XXY males: comparison with fertile and infertiles males with normal karyotype. Mol Hum Reprod. 2000, 6:107-112.
60. Hennebicq S., Pelletier R., Bergues U., Rousseaux S. Risk of trisomy 21 in offspring of patients with Klinefelter's syndrome. Lancet 2001, 357:2104-2105.
61. Hall H., Hunt P., Hassold T. Meiosis and sex chromosome aneuploidy: how meiotic errors cause aneuploidy ; how aneuploidy causes meiotic errors. Curr Opin Genet Dev 2006, 16:323-329.
62. Bonduelle M., Liebaers I., Deketelaere V., Derde M.P., Camus M., Devroey P., et al. Neonatal data on a cohort of 2889 infants born after ICSI (1991-1999) and of 2995 infants born after IVF (1983-1999). Hum Reprod 2002, 17:671-694.
63. Paniagua R., Nistal M. Morphological and histometric study of human spermatogonia from birth to the onset of puberty. J Anat 1984, 139(Pt 3):535-552.
64. Rey R. The prepubertal testis: a quiescent or a silently active organ?. Histol Histopathol 1999, 14:991-1000.
65. Lin Y.M., Huang W.J., Lin J.S., Kuo P.L. Progressive depletion of germ cells in a man with nonmosaic Klinefelter's syndrome: optimal time for sperm recovery. Urology 2004, 63:380-381.
66. Ichioka K., Utsunomiya N., Kohei N., Ueda N., Inoue K., Terai A. Adult onset of declining spermatogenesis in a man with nonmosaic Klinefelter's syndrome. Fertil Steril 2006, 85(1511):e1-e2.
67. Damani M.N., Mittal R., Oates R.D. Testicular tissue extraction in a young male with 47,XXY Klinefelter's syndrome: potential strategy for preservation of fertility. Fertil Steril 2001, 76:1054-1056.
68. Aksglaede L., Wikström A.M., Rajpert-De Meyts E., Dunkel L., Skakkebaek N.E., Juul A. Natural history of seminiferous tubule degeneration in Klinefelter syndrome. Hum Reprod Update 2006, 12:39-48.
69. Matsumoto A.M. Hormonal therapy of male hypogonadism. Endocrinol Metab Clin North Am 1994, 23:857-875.
70. Aksglaede L., Jorgensen N., Skakkebaek N.E., Juul A. Low semen volume in 47 adolescents and adults with 47,XXY Klinefelter or 46,XX male syndrome. Int J Androl 2009, 32:376-384.
71. Wikstrom A.M., Dunkel L., Wickman S., Norjavaara E., Ankarberg-Lindgren C., Raivio T. Are adolescent boys with Klinefelter syndrome androgen deficient? A longitudinal study of Finnish 47,XXY boys. Pediatr Res 2006, 59:854-859.
72. Okada H., Shirakawa T., Ishikawa T., Goda K., Fujisawa M., Kamidono S. Serum testosterone levels in patients with nonmosaic Klinefelter syndrome after testicular sperm extraction for intracytoplasmic sperm injection. Fertil Steril 2004, 82:237-238.
73. Takada S., Tsujimura A., Ueda T., Matsuoka Y., Takao T., Miyagawa Y., et al. Androgen decline in patients with nonobstructive azoospemia after microdissection testicular sperm extraction. Urology 2008, 72:114-118.
74. Schonbucher V.B., Landolt M.A., Gobet R., Weber D.M. Psychosexual development of children and adolescents with hypospadias. J Sex Med 2008, 5:1365-1373.
75. Bajos N., Bozon M., Beltzer N. Sexuality, prevention and gender relations during life. Med Sci (Paris) 2008, 24(Spec No 2):24-32.
76. Janczewski Z., Bablok L. Semen characteristics in pubertal boys. I. Semen quality after first ejaculation. Arch Androl 1985, 15:199-205.
77. Janczewski Z., Bablok L. Semen characteristics in pubertal boys. IV. Semen quality and hormone profile. Arch Androl 1985, 15:219-223.
78. Bahadur G. Cryobiology ethics of human reproduction. Semin Reprod Med 2002, 20:75-83.
79. Van Casteren N., Dohle G.R., Looijenga L.H. Reply to Klaus-Peter Dieckmann's Letter to the Editor re: Niels J. van Casteren, Hans Stoop, Gert R. Dohle, Ronald de Wit, J. Wolter Oosterhuis, Leendert H.J. Looijenga. Noninvasive Detection of Testicular Carcinoma In Situ in Semen Using OCT3/4. Eur Urol 2008, 10.1016/j.eururo.2008.02.041.
80. Tournaye H., Verheyen G., Albano C., Camus M., Van Landuyt L., Devroey P., et al. Intracytoplasmic sperm injection versus in vitro fertilization: a randomized controlled trial and a meta-analysis of the literature. Fertil Steril 2002, 78:1030-1037.
81. Tournaye H., Verheyen G., Nagy P., Ubaldi F., Goossens A., Silber S., et al. Are there any predictive factors for successful testicular sperm recovery in azoospermic patients?. Hum Reprod 1997, 12:80-86.
82. Levron J., Aviram-Goldring A., Madgar I., Raviv G., Barkai G., Dor J. Sperm chromosome analysis and outcome of IVF in patients with non-mosaic Klinefelter's syndrome. Fertil Steril 2000, 74:925-929.
83. Seo J.T., Ko W.J. Predictive factors of successful testicular sperm recovery in non-obstructive azoospermia patients. Int J Androl 2001, 24:306-310.
84. Okada H., Goda K., Muto S., Maruyama O., Koshida M., Horie S. Four pregnancies in nonmosaic Klinefelter's syndrome using cryopreserved-thawed testicular spermatozoa. Fertil Steril 2005, 84:1508.
85. Vernaeve V., Krikilion A., Verheyen G., Van Steirteghem A., Devroey P., Tournaye H. Outcome of testicular sperm recovery and ICSI in patients with non-obstructive azoospermia with a history of orchidopexy. Hum Reprod 2004, 19:2307-2312.