Abstract
Purposes
To investigate the frequencies of AZF microdeletions and chromosomal abnormalities in infertile men from Northeastern China. Moreover, to compare the prevalence of these abnormalities with other countries and regions in the world.
Methods
305 infertile men were enrolled. A complete semen analysis and reproductive hormones were measured according to standard methods. Multiplex polymerase chain reaction (PCR) amplification using nine specific sequence-tagged sites (STS) were used to detect AZF microdeletions. Karyotype analyses were performed on peripheral blood lymphocytes with standard G-banding.
Results
Of the 305 infertile men, 28 (9.2%) had AZF microdeletions and 26 (8.5%) had chromosomal abnormalities. The most frequent microdeletions were in the AZFc+d, followed by AZFc, AZFb+c+d and AZFa. A total of 19 patients (82.6%) had Klinefelter′s syndrome (47, XXY) in the azoospermic group.
Conclusions
The freqencies of AZF microdeletions and chromosomal abnormalities in infertile men from Northeastern China were comparable with infertile men from other countries and regions. However, there was a slightly higher prevalence rate of AZF microdeletions in oligozoospermic patients than reported in previous studies.
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References
Balkan M, Tekes S, Gedik A. Cytogenetic and Y chromosome microdeletion screening studies in infertile males with Oligozoospermia and Azoospermia in Southeast Turkey. J Assist Reprod Genet. 2008;25:559–65.
Zhu YJ, Liu SY, Wang H, Wei P, Ding XP. The prevalence of azoospermia factor microdeletion on the Y chromosome of Chinese infertile men detected by multi-analyte suspension array technology. Asian J Androl. 2008;10(6):873–81.
World Health Organization. Towards more objectivity in diagnosis and management of male fertility. Int J Androl. 1987;7(Suppl):1–53.
Tiepolo L, Zuffardi O. Location of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet. 1976;34:119–24.
Fu JJ, Li LY, Lu GX. Relationship between microd eletion on Y chromosome and patients with idiopathic azoospermia and severe oligozoospermia in the Chinese. Chin Med J. 2002;115(1):72–5.
Zhou CA, Yang Y, Zhang SZ, Zhang W, Lin L. Chromosomal abnormality and Y chromosome microdeletion in Chinese patients with Azoospermia or severe Oligozoospermia. Yi Chuan Xue Bao. 2006;33(2):111–6.
Patricia B, Georgina RB, Emma JP, Ghada AO, Evelyne H. Dynamic nature of the proximal AZFc region of the human Y chromosome: multiplex independent deletion and duplication events revealed by microsatellite analysis. Hum Mutat. 2008;29(10):1171–80.
SB FU. Medical genetics. In: Bu XB, editor. Chromosomal disease. 2nd ed. Beijing: Peking University Medical Press; 2009. p. 63–88.
Devroey P, Fauser BC, Diedrich K. Approaches to improve the diagnosis and management of infertility. Hum Reprod Update. 2009;15(4):391–408.
Gong D, Liu YL, Zheng Z, Tian YF, Li Z. An overview on ethical issues about sperm donation. Asian J Androl. 2009;11:645–52.
World Health Organization. WHO laboratory manual for the examination of human semen and sperm-cervical mucus interaction. 4th ed. Cambridge: Cambridge University Press; 1999.
Francavilla F, Sciarretta F, Sorgentone S, Necozione S, Santucci R, Barbonetti A, et al. Intrauterine insemination with or without mild ovarian stimulation in couples with male subfertility due to oligo/astheno- and/or teratozoospermia or antisperm antibodies: a prospective cross-over trial. Fertil Steril. 2009;92(3):1009–11.
Dada R, Gupta NP, Kucheria K, et al. Molecular screening for Yq microdeletion in men with idiopathic oligozoospermia and azoospermia. J Biosci. 2003;28(2):163–8.
Simoni M, Bakker E, Eurlings MC, et al. Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions. Int J Androl. 1999;22(5):292–9.
Mitelman F, editor. ISCN (1995). An international system for human cytogenetic nomenclature. Basel: Karger; 1995.
SaoPedro SL, Fraietta R, Spaine D, Porto CS, Srougi M, Cedenho AP, et al. Prevalence of Y chromosome deletions in a Brazilian population of nonobstructive azoospermic and severily oligozoospermic men. Braz J Med Biol Res. 2003;36:787–93.
Osterlund C, Segersteen E, Arver S, Pousette A. Low number of Y-chromosome deletions in infertile azoospermic men at a Swedish andrology center. Int J Androl. 2000;23(4):225–9.
Vutyavanich T, Piromlertamorn W, Sirirungsi W, Sirisukkasem S. Frequency of Y chromosome microdeletions and chromosomal abnormalities in infertile Thai men with oligozoospermia and azoospermia. Asian J Androl. 2007;9:68–75.
Sargin CF, Berker-Karauzum S, Manguoglu E, Erdogru T, Karaveli S, Gulkesen KH, et al. AZF microdeletions on the Y chromosome of infertile men from Turkey. Ann Génét. 2004;47:61–8.
Tse JY, Yeung WS, Ng EH, Cheng LN, Zhu HB, Teng XM, et al. A comparative study of Y chromosome microdeletions in infertile males from two Chinese populations. J Assist Reprod Genet. 2002;19:376–83.
Chen S, Lien Y, Ko T, Ho H, Yang Y, Chang H. Genetic screening of karyotypes and azoospermic factors for infertile men who are candidates for ICSI. Arch Androl. 2003;49:423–7.
Aho M, Harkonen K, Suikkari A, Juvonen V, Anttila L, Lahdetie J. Y-chromosomal microdeletions among infertile Finnish men. Acta Obstet Gynecol Scand. 2001;80:652–6.
Van Assche E, Bonduelle M, Tournaye H, Joris H, Verheyen G, Devroey P, et al. Cytogenetics of infertile men. Hum Reprod. 1996;11:1–24.
Vicdan A, Vicdan K, Gunalp S, Kence A, Akarsu C, Isik AZ, et al. Genetic aspects of human male infertility: the frequency of chromosomal abnormalities and Y chromosome microdeletions in severe male factor infertility. Eur J Obstet Gynecol Reprod Biol. 2004;117:49–54.
Forestats C, Moro E, Garolla A, Onisto M, Ferlin A. Y chromosome microdeletions in cryptorchidism and idiopathic infertility. J Clin Endocrinol Metab. 1999;84:3660–5.
Aknin-Seifer IE, Touraine RL. A simple low cost and non-invasive method for screening Y-chromosome microdeletions in infertile men. Hum Reprod. 2003;18:257–61.
Kent-First MG, Kol S, Muallem A, et al. The incidence and possible relevance of Y-linked microdeletions in babiesborn after intracytoplasmic sperm injection and their infertile fathers. Mol Hum Reprod. 1996;2:943–50.
Liebaers I, Bonduelle M, Van Assche E, Devroey P, Van Steirteghem A. Sex chromosome abnormalities after intracytoplasmic sperm injection. Lancet. 1995;346:1095.
Acknowledgements
We thank all the patients and donors of DNA samples. We are grateful to all staff of the Andrology Laboratory for their excellent work. We also thank Professor Frederick William Orr for his English-language assistance and critical review. This work was kindly supported by the funds of the Office of Science and Technology project in Jilin Province (NO. 200705371).
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Capsule It is essential for infertile men from Northeastern China to take genetic counseling and reliable screening for AZF microdeletions and chromosomal abnormalities.
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Wang, RX., Fu, C., Yang, YP. et al. Male infertility in China: laboratory finding for AZF microdeletions and chromosomal abnormalities in infertile men from Northeastern China. J Assist Reprod Genet 27, 391–396 (2010). https://doi.org/10.1007/s10815-010-9420-9
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DOI: https://doi.org/10.1007/s10815-010-9420-9