SPERM CHROMOSOME ANEUPLOIDY AS RELATED TO MALE FACTOR INFERTILITY AND SOME ULTRASTRUCTURE DEFECTS

Some men have elevated levels of sperm chromosome aneuploidy. In this study, we have evaluated and summarized sperm aneuploidy rates in male infertility patients and control groups. The mean aneuploidy rate for five chromosomes (X, Y, 13, 18, 21) was 1.2 ± 0.1 for fertile controls, 1.4 ± 0.1 for a general population control group, and 5.8 ± 1.14 for the patients. When the patients were classified by the type of male factor infertility, the total aneuploidy rate was 2.6 ± 0.3 in men with moderately diminished semen quality (n = 7), 4.0 ± 0.3 patients with severe teratoasthenooligozoospermia, and 15.9 ± 3.8 for men with rare ultrastructure defects such as round head only syndrome or severe tail agenesis. Some infertility patients have a severely elevated level of sperm chromosome aneuploidy, which may contribute to infertility or diminish the likelihood of a successful outcome from IVF/ICSI. The severity of sperm chromosome aneuploidy appears to be proportional to the severity of abnormal semen quality: in particular, abnormal morphology. The high rates of aneuploidy in patients with severe ultrastructure defects suggest that caution should be employed in counseling those patients prior to IVF/ICSI.

[1]  Y. Yoshimura,et al.  The Effects of Age and Abnormal Sperm Count on the Nondisjunction of Spermatozoa , 2004, Journal of Assisted Reproduction and Genetics.

[2]  C. Peterson,et al.  Elevated Sperm Chromosome Aneuploidy and Apoptosis in Patients With Unexplained Recurrent Pregnancy Loss , 2003, Obstetrics and gynecology.

[3]  H. Tournaye ICSI: a technique too far? , 2003, International journal of andrology.

[4]  Renée H. Martin Chromosome abnormalities in human sperm. , 2003, Advances in experimental medicine and biology.

[5]  R. Edwards,et al.  Are major defects in children conceived in vitro due to innate problems in patients or to induced genetic damage? , 2003, Reproductive biomedicine online.

[6]  A. Kuliev,et al.  Chromosomal abnormalities in a series of 6,733 human oocytes in preimplantation diagnosis for age-related aneuploidies. , 2003, Reproductive biomedicine online.

[7]  E. Vicari,et al.  Sperm aneuploidy in infertile men. , 2003, Reproductive biomedicine online.

[8]  P. Hunt,et al.  Sex Matters in Meiosis , 2002, Science.

[9]  J. Kurinczuk,et al.  The risk of major birth defects after intracytoplasmic sperm injection and in vitro fertilization. , 2002, The New England journal of medicine.

[10]  P. Devroey,et al.  Follow-up of children born after ICSI. , 2002, Human reproduction update.

[11]  D. Carrell,et al.  Chromosome 15 aneuploidy in the sperm and conceptus of a sibling with variable familial expression of round-headed sperm syndrome. , 2001, Fertility and sterility.

[12]  [Laboratory manual of the WHO for the examination of human semen and sperm-cervical mucus interaction]. , 2001, Annali dell'Istituto superiore di sanita.

[13]  E. Schwinger,et al.  Comparative study of disomy and diploidy rates in spermatozoa of fertile and infertile men: a donor-adapted protocol for multi-colour fluorescence in situ hybridization (FISH). , 2000, International journal of andrology.

[14]  J. Mills,et al.  Mechanisms of maternal aneuploidy: FISH analysis of oocytes and polar bodies in patients undergoing assisted conception , 2000, Human Genetics.

[15]  A. Rademaker,et al.  Analysis of aneuploidy frequencies in sperm from patients with hereditary nonpolyposis colon cancer and an hMSH2 mutation. , 2000, American journal of human genetics.

[16]  D. Carrell,et al.  Characterization of aneuploidy rates, protamine levels, ultrastructure, and functional ability of round-headed sperm from two siblings and implications for intracytoplasmic sperm injection. , 1999, Fertility and sterility.

[17]  A. Wyrobek,et al.  Simultaneous detection of structural and numerical chromosome abnormalities in sperm of healthy men by multicolor fluorescence in situ hybridization , 1996, Human Genetics.

[18]  E. Ko,et al.  Detection of aneuploidy in human interphase spermatozoa by fluorescence in situ hybridization (FISH). , 1993, Cytogenetics and cell genetics.

[19]  L. Zamboni Sperm structure and its relevance to infertility. An electron microscopic study. , 1992, Archives of pathology & laboratory medicine.