Андрология и генитальная хирургия. 2014; 15: 16-25
Возможность получения сперматозоидов у мужчин с немозаичной формой синдрома Клайнфельтера в программах экстракорпорального оплодотворения. Обзор литературы и описание случая
https://doi.org/10.17650/2070-9781-2014-3-16-25Аннотация
Описаны современные методы обследования, предоперационной подготовки и хирургического лечения бесплодия у мужчин с немозаичной формой синдрома Клайнфельтера (СК) путем извлечения тестикулярных сперматозоидов методом микродиссекции. Мужчины с СК, реагирующие на гормональную терапию ингибиторами ароматазы и хорионическим гонадотропином человека (ХГЧ), имеют больше шансов на благоприятный исход лечения бесплодия. Объем яичек, уровень тестостерона и результаты теста с ХГЧ являются важными прогностическими факторами у данной группы пациентов. Приведен клинический случай попытки лечения бесплодия у мужчины с СК методом микрохирургической экстракции сперматозоидов из ткани яичка (микроТЕСЕ).
Список литературы
1. Калинченко С.Ю., Мельниченко Г.А., Гусакова Д.А. Синдром Клайнфельтера. М.: Практическая медицина, 2007.
2. Klinefelter H.F. Jr., Reifenstein E.C. Jr., Albright F. Syndrome characterized by gynaecomastia, aspermatogenesis without A-Leydigism and increased excretion of follicle-stimulating hormone. J Clin Endocrinol 1942;2:615–27.
3. Bunge R.G., Bradbury J.T. A 10-year-old boy with a positive sex chromatin test. J Urol 1957;78(6):775–9.
4. Козлова С.И., Демикова Н.С., Семанова Е., Блинникова О.Е. Наследственные синдромы и медико-генетическое консультирование. М., 1996. С. 305.
5. Herlihy A.S., Halliday J.L., Cock M.L., McLachlan R.I. The prevalence and diagnosis rates of Klinefelter syndrome: an Australian comparison. Med J Aust 2011;194(1):24–8.
6. Cirigliano V., Lewin P., Szpiro-Tapies S. et аl. Assessment of new markers for the rapid detection of aneuploidies by quantitative fluorescent PCR (QF-PCR). Ann Hum Genet 2001;65(Pt 5):421–7.
7. Lanfranco F., Kamischke A., Zitzmann M., Nieschlag E. Klinefelter’s syndrome. Lancet 2004;364 (9430):273–83.
8. Forti G., Corona G., Vignozzi L. et аl. Klinefelter’s syndrome: a clinical and therapeutical update. Sex Dev 2010;4(4–5): 249–58.
9. Abdelmoula N.B., Amouri A., Portnoi M.F. еt al. Cytogenetics and fluorescence in situ hybridization assessment of sex-chromosome mosaicism in Klinefelter’s syndrome. Ann Genet 2004;47(2):163–75.
10. Андрология. Мужское здоровье и дисфункция репродуктивной системы. Под ред. Э. Нишлага, Г.М. Бере. М.: МИА, 2005. С. 185–7.
11. Баранов В.С., Кузнецова Т.В. Цитогенетика эмбрионального развития человека. М.: Издательство Н-Л, 2007.
12. Rives N., Joly G., Machy A. et аl. 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.
13. Kuliev A., Verlinsky Y. Preimplantation genetic diagnosis in assisted reproduction. Expert Rev Mol Diagn 2005;5(4):499–505.
14. Jacobs P.A., Bacino C., Hassold T. et аl. A cytogenetic study of 47,XXY males of known origin and their parents. Ann Hum Genet 1988;52(Pt 4):319–25.
15. Harvey J., Jacobs P.A., Hassold T., Pettay D. The parental origin of 47,XXY males. Birth Defects Orig Artic Ser 1990;26(4):289–96.
16. Джонс К. Наследственные синдромы по Дэвиду Смиту: атлас-справочник. Пер. с англ. А.Г. Азова, И.А. Ивановой, А.В. Мишарина и др. М.: Изд-во Практика, 2011. С. 70–2.
17. Bastida M.G., Rey R.A., Bergadá I. et al. Establishment of testicular endocrine function impairment during childhood and puberty in boys with Klinefelter syndrome. Clin Endocrinol (Oxf) 2007;67(6):863–70.
18. Palermo G.D., Schlegel P.N., Sills E.S. et al. Births after intracytoplasmic injection of sperm obtained by testicular extraction from men with nonmosaic Klinefelter’s syndrome. Engl J Med 1998;338(9):588–90.
19. Nodar F., De Vincentiis S., Olmedo S.B. et al. Birth of twin males with normal karyotype after intracytoplasmic sperm injection with use of testicular spermatozoa for a nonmosaic patient with Klinefelter’s syndrome. Fertil Steril 1999;71(6):1149–52.
20. Schiff J.D., Palermo G.D., Veeck L.L. 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.
21. Poulakis V., Witzsch U., Diehl W. et al. Birth of two infants with normal karyotype after intracytoplasmic injection of sperm obtained by testicular extraction from two men with nonmosaic Klinefelter’s syndrome. Fertil Steril 2001;76(5):1060–2.
22. 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: 2616–20.
23. Виноградов И.В. Современные методы лечения генетически обусловленного секреторного бесплодия. Автореф. дис. … д-ра мед. наук. М., 2011.
24. Ramasamy R., Ricci J.A., Palermo G.D. et al. Successful fertility treatment for Klinefelter’s syndrome. J Urol 2009;182(3):1108–13.
25. 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.
26. Maiburg M.C., Hoppenbrouwers A.C., van Stel H.F., Giltay J.C. Attitudes of Klinefelter men and their relatives towards TESE-ICSI. J Assist Reprod Genet 2011;28(9):809–14.
27. Черных В.Б. Микроделеционный анализ AZF-локуса в рамках комплексного клинико-генетического обследования мужчин с азооспермией и олигоспермией. Автореф. дис. ... канд. мед. наук. М., 2002.
28. Fu L., Ding X.Р., Shen M.J. et al. Screening and clinical phenotype analysis of microdeletions of azoospermia factor region on Y chromosome in 1011 infertile men. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2012; 29(2):184–7.
29. Hadjkacem-Loukil L., Ghorbel M., Bahloul A. et al. Genetic association between AZF region polymorphism and Klinefelter syndrome. Reprod Biomed Online 2009;19(4):547–51.
30. Choe J.H., Kim J.W., Lee J.S., Seo J.T. Routine screening for classical azoospermia factor deletions of the Y chromosome in azoospermic patients with Klinefelter syndrome. Asian J Androl 2007;9(6):815–20.
31. Raman J.D., Schligel P.N. Aromatase ingibitors for male infertility. J Urol 2002; 167(2 Pt 1):624–9.
32. Ben-Ami I., Raziel A., Strassburger D. еt аl. Intracytoplasmic sperm injection outcome of ejaculated versus extracted testicular spermatozoa in cryptozoospermic men. Fertil Steril 2013;99(7):1867–71.
33. Goossens E., Van Saen D., Tournaye H. Spermatogonial stem cell preservation and transplantation: from research to clinic. Hum Reprod 2013;28(4):897–907.
34. Tüttelmann F., Damm O.S., Luetjens C.M. et al. Intratesticular testosterone is increased in men with Klinefelter syndrome and may not be released into the bloodstream owing to altered testicular vascularization – a preliminary report. Andrology 2014.
35. Mehta A., Bolyakov A., Roosma J. et al. Successful testicular sperm retrieval in adolescents with Klinefelter syndrome treated with at least 1 year of topical testosterone and aromatase inhibitor. Fertil Steril 2013;100(4):970–4.
36. Гоголевский П.А. Использование сперматид в процедуре ЭКО/ ИКСИ. Проблемы репродукции 1998;2:5–11.
37. Vloeberghs V., Verheyen G., Tournaye H. Intracytoplasmic spermatid injection and in vitro maturation: fact or fiction? Clinics (Sao Paulo) 2013;68 Suppl 1:151–6.
38. Mansour R.T., Fahmy I.M., Taha A.K. et al. Intracytoplasmic spermatid injection can result in the delivery of normal offspring. J Androl 2003;24(5):757–64.
Andrology and Genital Surgery. 2014; 15: 16-25
Microdissection testicular sperm extraction in patients with non-mosaic Klinefelter syndrome in programme in vitro fertilization: literature review and cases report
https://doi.org/10.17650/2070-9781-2014-3-16-25Abstract
The article describes modern methods of examination, preoperative preparation and surgical treatment of infertility in men with non-mosaic form of Klinefelter syndrome (SK) by microdissection method of testicular sperm retrieval. Men with SK responsive to hormonal therapy with aromatase inhibitors and human chorionic gonadotropin (НCG), have a greater chance of a favourable outcome of infertility treatment. Testicular volume, testosterone levels and test results with НCG are important prognostic factors in this group of patients. We present a clinical case of treatment of infertility in men with SK by microTESE (microdissection testicular sperm extraction).
References
1. Kalinchenko S.Yu., Mel'nichenko G.A., Gusakova D.A. Sindrom Klainfel'tera. M.: Prakticheskaya meditsina, 2007.
2. Klinefelter H.F. Jr., Reifenstein E.C. Jr., Albright F. Syndrome characterized by gynaecomastia, aspermatogenesis without A-Leydigism and increased excretion of follicle-stimulating hormone. J Clin Endocrinol 1942;2:615–27.
3. Bunge R.G., Bradbury J.T. A 10-year-old boy with a positive sex chromatin test. J Urol 1957;78(6):775–9.
4. Kozlova S.I., Demikova N.S., Semanova E., Blinnikova O.E. Nasledstvennye sindromy i mediko-geneticheskoe konsul'tirovanie. M., 1996. S. 305.
5. Herlihy A.S., Halliday J.L., Cock M.L., McLachlan R.I. The prevalence and diagnosis rates of Klinefelter syndrome: an Australian comparison. Med J Aust 2011;194(1):24–8.
6. Cirigliano V., Lewin P., Szpiro-Tapies S. et al. Assessment of new markers for the rapid detection of aneuploidies by quantitative fluorescent PCR (QF-PCR). Ann Hum Genet 2001;65(Pt 5):421–7.
7. Lanfranco F., Kamischke A., Zitzmann M., Nieschlag E. Klinefelter’s syndrome. Lancet 2004;364 (9430):273–83.
8. Forti G., Corona G., Vignozzi L. et al. Klinefelter’s syndrome: a clinical and therapeutical update. Sex Dev 2010;4(4–5): 249–58.
9. Abdelmoula N.B., Amouri A., Portnoi M.F. et al. Cytogenetics and fluorescence in situ hybridization assessment of sex-chromosome mosaicism in Klinefelter’s syndrome. Ann Genet 2004;47(2):163–75.
10. Andrologiya. Muzhskoe zdorov'e i disfunktsiya reproduktivnoi sistemy. Pod red. E. Nishlaga, G.M. Bere. M.: MIA, 2005. S. 185–7.
11. Baranov V.S., Kuznetsova T.V. Tsitogenetika embrional'nogo razvitiya cheloveka. M.: Izdatel'stvo N-L, 2007.
12. Rives N., Joly G., Machy A. 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.
13. Kuliev A., Verlinsky Y. Preimplantation genetic diagnosis in assisted reproduction. Expert Rev Mol Diagn 2005;5(4):499–505.
14. Jacobs P.A., Bacino C., Hassold T. et al. A cytogenetic study of 47,XXY males of known origin and their parents. Ann Hum Genet 1988;52(Pt 4):319–25.
15. Harvey J., Jacobs P.A., Hassold T., Pettay D. The parental origin of 47,XXY males. Birth Defects Orig Artic Ser 1990;26(4):289–96.
16. Dzhons K. Nasledstvennye sindromy po Devidu Smitu: atlas-spravochnik. Per. s angl. A.G. Azova, I.A. Ivanovoi, A.V. Misharina i dr. M.: Izd-vo Praktika, 2011. S. 70–2.
17. Bastida M.G., Rey R.A., Bergadá I. et al. Establishment of testicular endocrine function impairment during childhood and puberty in boys with Klinefelter syndrome. Clin Endocrinol (Oxf) 2007;67(6):863–70.
18. Palermo G.D., Schlegel P.N., Sills E.S. et al. Births after intracytoplasmic injection of sperm obtained by testicular extraction from men with nonmosaic Klinefelter’s syndrome. Engl J Med 1998;338(9):588–90.
19. Nodar F., De Vincentiis S., Olmedo S.B. et al. Birth of twin males with normal karyotype after intracytoplasmic sperm injection with use of testicular spermatozoa for a nonmosaic patient with Klinefelter’s syndrome. Fertil Steril 1999;71(6):1149–52.
20. Schiff J.D., Palermo G.D., Veeck L.L. 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.
21. Poulakis V., Witzsch U., Diehl W. et al. Birth of two infants with normal karyotype after intracytoplasmic injection of sperm obtained by testicular extraction from two men with nonmosaic Klinefelter’s syndrome. Fertil Steril 2001;76(5):1060–2.
22. 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: 2616–20.
23. Vinogradov I.V. Sovremennye metody lecheniya geneticheski obuslovlennogo sekretornogo besplodiya. Avtoref. dis. … d-ra med. nauk. M., 2011.
24. Ramasamy R., Ricci J.A., Palermo G.D. et al. Successful fertility treatment for Klinefelter’s syndrome. J Urol 2009;182(3):1108–13.
25. 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.
26. Maiburg M.C., Hoppenbrouwers A.C., van Stel H.F., Giltay J.C. Attitudes of Klinefelter men and their relatives towards TESE-ICSI. J Assist Reprod Genet 2011;28(9):809–14.
27. Chernykh V.B. Mikrodeletsionnyi analiz AZF-lokusa v ramkakh kompleksnogo kliniko-geneticheskogo obsledovaniya muzhchin s azoospermiei i oligospermiei. Avtoref. dis. ... kand. med. nauk. M., 2002.
28. Fu L., Ding X.R., Shen M.J. et al. Screening and clinical phenotype analysis of microdeletions of azoospermia factor region on Y chromosome in 1011 infertile men. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2012; 29(2):184–7.
29. Hadjkacem-Loukil L., Ghorbel M., Bahloul A. et al. Genetic association between AZF region polymorphism and Klinefelter syndrome. Reprod Biomed Online 2009;19(4):547–51.
30. Choe J.H., Kim J.W., Lee J.S., Seo J.T. Routine screening for classical azoospermia factor deletions of the Y chromosome in azoospermic patients with Klinefelter syndrome. Asian J Androl 2007;9(6):815–20.
31. Raman J.D., Schligel P.N. Aromatase ingibitors for male infertility. J Urol 2002; 167(2 Pt 1):624–9.
32. Ben-Ami I., Raziel A., Strassburger D. et al. Intracytoplasmic sperm injection outcome of ejaculated versus extracted testicular spermatozoa in cryptozoospermic men. Fertil Steril 2013;99(7):1867–71.
33. Goossens E., Van Saen D., Tournaye H. Spermatogonial stem cell preservation and transplantation: from research to clinic. Hum Reprod 2013;28(4):897–907.
34. Tüttelmann F., Damm O.S., Luetjens C.M. et al. Intratesticular testosterone is increased in men with Klinefelter syndrome and may not be released into the bloodstream owing to altered testicular vascularization – a preliminary report. Andrology 2014.
35. Mehta A., Bolyakov A., Roosma J. et al. Successful testicular sperm retrieval in adolescents with Klinefelter syndrome treated with at least 1 year of topical testosterone and aromatase inhibitor. Fertil Steril 2013;100(4):970–4.
36. Gogolevskii P.A. Ispol'zovanie spermatid v protsedure EKO/ IKSI. Problemy reproduktsii 1998;2:5–11.
37. Vloeberghs V., Verheyen G., Tournaye H. Intracytoplasmic spermatid injection and in vitro maturation: fact or fiction? Clinics (Sao Paulo) 2013;68 Suppl 1:151–6.
38. Mansour R.T., Fahmy I.M., Taha A.K. et al. Intracytoplasmic spermatid injection can result in the delivery of normal offspring. J Androl 2003;24(5):757–64.
