Bất thường di truyền trong vô sinh nam

  BS. Nguyễn Xuân Quý
  Phòng Khám Nam Khoa - BV Từ Dũ

TÓM TẮT:

Phương pháp: Viết lại một cách có hệ thống dựa trên tham khảo y văn trên thế giới về lãnh vực bất thường di truyền trong vô sinh nam (có bổ sung một số dữ liệu trên người Việt Nam).

ABSTRACT:

Results: The variety of clinical presentation infertile man ranging from  hypogonadotropic hypogonadism to spermatogenic failure (severe oligospermia, non-obstructive azoospermia) to obstructive azoospermia are associated with  genetic defects including numerical and structural chromosomal aberrations and cystic fibrosis transmembrane regulator mutational gene. Numerical chromosomal aberration mainly involved sex chromosome such as: 47,XXY; 46,XX male; 47,XYY cause spermatogenic failure (azoospermia and severe oligospermia). Structural sex chromosomal aberrations such as inversions, translocations may impair spermatogenesis, resulting in oligoasthenotetratozoospermia. We especially pay attention to Y chomosome microdeletions including AZFa, AZFb, AZFc related to spermatogenic defects with extreme oligospermia and azoospermia. Structural  abnormalities of the autosomes may cause disturbances of male infertilities, resulting in 2 different clinical manifestations: oligospermia or successive  abortion.

Conclusion:  Nowsaday,thanks to assisted reproductive techniques (ARTs), especially ICSI  create opportunity for severe infertile men to father children. However, they  have the risks of passing genetic abnormalities to the offspring. Therefore,  they should be counseled about these risks before applicated of ARTs in order to avoid creating future generations of genetically abnormal community and each individual as well.

Trích HN Việt - Pháp lần 8, năm 2008