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This version published online on October 27, 2004
Journal of Clinical Endocrinology & Metabolism, doi:10.1210/jc.2004-1469
A more recent version of this article appeared on January 1, 2005
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Submitted on July 26, 2004
Accepted on October 20, 2004

Genetic abnormalities among severely oligospermic men who are candidates for intracytoplasmic sperm injection

Carlo Foresta*, Andrea Garolla, Lucia Bartoloni, Andrea Bettella, and Alberto Ferlin

University of Padova, Department of Histology, Microbiology and Medical Biotechnologies, Centre for Male Gamete Cryopreservation, Via Gabelli 63, 35121 Padova, Italy

* To whom correspondence should be addressed.
Carlo Foresta, E-mail: carlo.foresta{at}unipd.it

Recent reports suggest that children born after intracytoplasmic sperm injection performed for male factor infertility are at increased risk of congenital malformations and chromosome aberrations. To explain these observations, we hypothesized that infertile men may be more likely than fertile men to have genetic abnormalities. We studied 750 severely oligozoospermic men (sperm count <5 mil/mL) who were candidates for intracytoplasmic sperm injection, and 303 fertile men. We analyzed the peripheral blood karyotype, the Y chromosome long arm for detection of microdeletions in the azoospermia factors, and mutations in the cystic fibrosis gene and the androgen receptor gene. We also analyzed sperm for chromosome aneuploidies among the 421 men who subsequently entered the in vitro fertilizing program. A total of 104 genetic abnormalities were diagnosed, corresponding to a frequency of 13.9 percent (104/750). Chromosomal aberrations were present in 5.6 percent (42/750) in infertile men and 0.3 percent in controls (1/295), and they were in most cases alterations of the sex chromosomes. Y chromosome long arm microdeletions were detected in 6.0 percent (45/750) in infertile men and most frequently included the azoospermia factor c whereas no cases were found in controls (0/210). Mutations in the cystic fibrosis gene were diagnosed in 1.2% (9/750) of infertile men and 1.0 in controls (3/303), and in the androgen receptor gene in 1.1% (8/750) of infertile men and 0/188 controls. Sperm sex chromosome aneuploidies were increased in men with karyotype anomalies and Y chromosome microdeletions, and also in subjects without constitutional genetic abnormalities. This study shows that the frequency of genetic alterations is increased among men with severe spermatogenic impairment. Genetic tests and genetic counseling should therefore be considered in oligozoospermic men who are candidates for intracytoplasmic sperm injection.
Key words: androgen receptor • ICSI • Klinefelter's syndrome • male infertility • Y chromosome




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