Андрология и генитальная хирургия. 2022; 23: 81-89
Параметры спермограммы у мужчин – носителей робертсоновских транслокаций (13;14)
https://doi.org/10.17650/2070-9781-2022-23-4-81-89Аннотация
Введение. Робертсоновские транслокации (РТ) являются наиболее распространенным типом сбалансированных хромосомных аномалий. Мужчины – носители РТ имеют повышенный риск нарушений репродукции, однако причины этого недостаточно изучены.
Цель исследования – оценить параметры спермограммы у мужчин – носителей РТ (13;14).
Материалы и методы. Обследованы 24 мужчины с кариотипом 45,XY,der(13;14)(q10;q10), обратившихся в связи с бесплодием в браке (n = 23) или привычным невынашиванием беременности у супруги (n = 1). Результаты. У 18 (75 %) пациентов выявлена олигоастенотератозооспермия, у 3 (13 %) пациентов – астенотератозооспермия, у 2 (8 %) – азооспермия. Нормозооспермия диагностирована только у 1 (4 %) пациента, у него в анамнезе – привычное невынашивание беременности у супруги.
Выводы. Бесплодие у обследованных мужчин – носителей РТ связано с нарушением сперматогенеза, у большинства пациентов приводящим к олигоастенотератозооспермии.
Список литературы
1. Nielsen J., Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet 1991;87(1):81–3. DOI: 10.1007/BF01213097
2. McKinlay Gardner R.J. et al. Robertsonian translocations. In: Gardner and sutherland’s chromosome abnormalities and genetic counseling. Ed. by R.J. McKinlay Gardner, D.J. Armour. 5th edn. Oxford monographs on medical genetics. New York: Oxford Academic, 2018. (online edn.). DOI: 10.1093/med/9780199329007.003.0007
3. De Braekeleer M., Dao T.N. Cytogenetic studies in male infertility: a review. Hum Reprod 1991;6(2):245–50. PMID: 2056021.
4. Van Assche E., Bonduelle M., Tournaye H. et al. Cytogenetics of infertile men. Hum Reprod 1996;11(Suppl 4):1–24. DOI: 10.1093/humrep/11.suppl_4.1
5. Ogur G., Van Assche E., Vegetti W. et al. Chromosomal segregation in spermatozoa of 14 Robertsonian translocation carriers. Mol Hum Reprod 2006;12(3):209–15. DOI: 10.1093/molehr/gah253
6. Luciani J.M., Guichaoua M.R., Mattei A., Morazzani M.R. Pachytene analysis of a man with a 13q;14q translocation and infertility. Behavior of the trivalent and nonrandom association with the sex vesicle. Cytogenet Cell Genet 1984;38(1):14–22. DOI: 10.1159/000132023
7. Rosenmann A., Wahrman J., Richler C. et al. Meiotic association between the XY chromosomes and unpaired autosomal elements as a cause of human male sterility. Cytogenet Cell Genet 1985;39(1):19–29. DOI: 10.1159/000132098
8. Godo A., Blanco J., Vidal F. et al. Altered segregation pattern and numerical chromosome abnormalities interrelate in spermatozoa from Robertsonian translocation carriers. Reprod Biomed Online 2015;31(1):79–88. DOI: 10.1016/j.rbmo.2015.04.003
9. Kovaleva N.V. Examination of rates and spectrums of robertsonian translocations in the general population and in patients with reproductive disorders. Russ J Genet 2018;54(4):489–93. DOI: 10.1134/S1022795418040099
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15. Pastuszek E., Kiewisz J., Kulwikowska P.M. et al. Sperm parameters and DNA fragmentation of balanced chromosomal rearrangements carriers. Folia Histochem Cytobiol 2015;53(4):314–21. DOI: 10.5603/fhc.a2015.0032
16. Lamotte A., Martinez G., Devillard F. et al. Is sperm FISH analysis still useful for Robertsonian translocations? Meiotic analysis for 23 patients and review of the literature. Basic Clin Androl 2018;28:5. DOI: 10.1186/s12610-018-0069-z
17. Mayeur A., Ahdad N., Hesters L. et al. Chromosomal translocations and semen quality: a study on 144 male translocation carriers. Reprod Biomed Online 2019;38(1):46–55. DOI: 10.1016/j.rbmo.2018.10.003
18. Gatimel N., Moreau J., Parinaud J., Léandri R.D. Sperm morphology: assessment, pathophysiology, clinical relevance, and state of the art in 2017. Andrology 2017;5(5):845–62. DOI: 10.1111/andr.12389
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20. Гамидов С.И., Овчинников Р.И., Попова А.Ю. и др. Эффективность программ вспомогательных репродуктивных технологий в зависимости от характера изменений спермограммы. Андрология и генитальная хирургия 2018;19(2):82–7. DOI: 10.17650/2070-9781-2018-19-2-82-87
21. Гамидов С.И., Овчинников Р.И., Попова А.Ю. и др. Роль мужского фактора бесплодия в программе вспомогательных репродуктивных технологий (обзор литературы). Андрология и генитальная хирургия 2017;18(3):28–36. DOI: 10.17650/2070- 9781-2017-18-3-28-36
22. Zhu S., Zhu Y., Zhang F. et al. FISH analysis of numerical chromosomal abnormalities in the sperm of robertsonian translocation der(13; 14)(q10;q10) carriers. Front Genet 2022;13:1010568. DOI: 10.3389/fgene.2022.1010568
23. Johannisson R., Schwinger E., Wolff H.H. et al. The effect of 13;14 Robertsonian translocations on germ-cell differentiation in infertile males. Cytogenet Cell Genet 1993;63(3):151–5. DOI: 10.1159/000133524
24. Page S.L., Shin J.C., Han J.Y. et al. Breakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation. Hum Mol Genet 1996;5(9):1279–88. DOI: 10.1093/hmg/5.9.1279
25. Morel F., Douet-Guilbert N., Le Bris M.J., Amice V. et al. Chromosomal abnormalities in couples undergoing intracytoplasmic sperm injection. A study of 370 couples and review of the literature. Int J Androl 2004;27(3):178–82. DOI: 10.1111/j.1365-2605.2004.00472.x
Andrology and Genital Surgery. 2022; 23: 81-89
Semen parameters in male carriers of Robertsonian translocations (13;14)
https://doi.org/10.17650/2070-9781-2022-23-4-81-89Abstract
Background. Robertsonian translocations (RTs) are the most common type of balanced chromosomal abnormalities. RT male carriers have an increased risk of reproductive disorders, but the causes of this still are not clear enough.
Aim. To evaluate semen parameters in RT(13;14) male carriers.
Materials and methods. 24 men with 45,XY,der(13;14)(q10;q10) karyotype and infertility (n = 23) or recurrent pregnancy loss in spouse (n = 1).
Results. Oligoasthenoteratozoospermia was detected in 18 (75 %) patients, asthenoteratozoospermia in 3 (13 %) patients, and azoospermia in 2 (8 %) patients. Normozoospermia was detected in 1 (4 %) patient, whose wife had a history of recurrent pregnancy loss.
Conclusion. Infertility in the examined RT male carriers is associated with spermatogenesis disorders, in most cases resulted in oligozooasthenoteratozoospermia.
References
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2. McKinlay Gardner R.J. et al. Robertsonian translocations. In: Gardner and sutherland’s chromosome abnormalities and genetic counseling. Ed. by R.J. McKinlay Gardner, D.J. Armour. 5th edn. Oxford monographs on medical genetics. New York: Oxford Academic, 2018. (online edn.). DOI: 10.1093/med/9780199329007.003.0007
3. De Braekeleer M., Dao T.N. Cytogenetic studies in male infertility: a review. Hum Reprod 1991;6(2):245–50. PMID: 2056021.
4. Van Assche E., Bonduelle M., Tournaye H. et al. Cytogenetics of infertile men. Hum Reprod 1996;11(Suppl 4):1–24. DOI: 10.1093/humrep/11.suppl_4.1
5. Ogur G., Van Assche E., Vegetti W. et al. Chromosomal segregation in spermatozoa of 14 Robertsonian translocation carriers. Mol Hum Reprod 2006;12(3):209–15. DOI: 10.1093/molehr/gah253
6. Luciani J.M., Guichaoua M.R., Mattei A., Morazzani M.R. Pachytene analysis of a man with a 13q;14q translocation and infertility. Behavior of the trivalent and nonrandom association with the sex vesicle. Cytogenet Cell Genet 1984;38(1):14–22. DOI: 10.1159/000132023
7. Rosenmann A., Wahrman J., Richler C. et al. Meiotic association between the XY chromosomes and unpaired autosomal elements as a cause of human male sterility. Cytogenet Cell Genet 1985;39(1):19–29. DOI: 10.1159/000132098
8. Godo A., Blanco J., Vidal F. et al. Altered segregation pattern and numerical chromosome abnormalities interrelate in spermatozoa from Robertsonian translocation carriers. Reprod Biomed Online 2015;31(1):79–88. DOI: 10.1016/j.rbmo.2015.04.003
9. Kovaleva N.V. Examination of rates and spectrums of robertsonian translocations in the general population and in patients with reproductive disorders. Russ J Genet 2018;54(4):489–93. DOI: 10.1134/S1022795418040099
10. WHO laboratory manual for the examination of human semen and sperm-cervical mucus interaction. 4th edn. Cambridge: Cambridge University Press, 1999.
11. WHO laboratory manual for the examination and processing of human semen. 5th edn. Geneva, Swtizerland: WHO, 2010.
12. Antonelli A., Gandini L., Petrinelli P. et al. Chromosomal alterations and male infertility. J Endocrinol Invest 2000;23(10):677–83. DOI: 10.1007/BF03343793
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14. Vozdova M., Oracova E., Kasikova K. et al. Balanced chromosomal translocations in men: relationships among semen parameters, chromatin integrity, sperm meiotic segregation and aneuploidy. J Assist Reprod Genet 2013;30(3):391–405. DOI: 10.1007/s10815-012-9921-9
15. Pastuszek E., Kiewisz J., Kulwikowska P.M. et al. Sperm parameters and DNA fragmentation of balanced chromosomal rearrangements carriers. Folia Histochem Cytobiol 2015;53(4):314–21. DOI: 10.5603/fhc.a2015.0032
16. Lamotte A., Martinez G., Devillard F. et al. Is sperm FISH analysis still useful for Robertsonian translocations? Meiotic analysis for 23 patients and review of the literature. Basic Clin Androl 2018;28:5. DOI: 10.1186/s12610-018-0069-z
17. Mayeur A., Ahdad N., Hesters L. et al. Chromosomal translocations and semen quality: a study on 144 male translocation carriers. Reprod Biomed Online 2019;38(1):46–55. DOI: 10.1016/j.rbmo.2018.10.003
18. Gatimel N., Moreau J., Parinaud J., Léandri R.D. Sperm morphology: assessment, pathophysiology, clinical relevance, and state of the art in 2017. Andrology 2017;5(5):845–62. DOI: 10.1111/andr.12389
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22. Zhu S., Zhu Y., Zhang F. et al. FISH analysis of numerical chromosomal abnormalities in the sperm of robertsonian translocation der(13; 14)(q10;q10) carriers. Front Genet 2022;13:1010568. DOI: 10.3389/fgene.2022.1010568
23. Johannisson R., Schwinger E., Wolff H.H. et al. The effect of 13;14 Robertsonian translocations on germ-cell differentiation in infertile males. Cytogenet Cell Genet 1993;63(3):151–5. DOI: 10.1159/000133524
24. Page S.L., Shin J.C., Han J.Y. et al. Breakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation. Hum Mol Genet 1996;5(9):1279–88. DOI: 10.1093/hmg/5.9.1279
25. Morel F., Douet-Guilbert N., Le Bris M.J., Amice V. et al. Chromosomal abnormalities in couples undergoing intracytoplasmic sperm injection. A study of 370 couples and review of the literature. Int J Androl 2004;27(3):178–82. DOI: 10.1111/j.1365-2605.2004.00472.x
