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Human Reproduction, Vol. 15, No. 7, 1604-1608, July 2000
© 2000 European Society of Human Reproduction and Embryology

Clustering of male infertility in the families of couples treated with intracytoplasmic sperm injection

D. Meschede1, B. Lemcke1, H.M. Behre2,3, Ch. De Geyter3, E. Nieschlag2 and J. Horst1,4

1 Institute of Human Genetics of the University, Vesaliusweg 12–14, 2 Institute of Reproductive Medicine of the University and 3 University Women's Hospital, D-48149 Münster, Germany

Intracytoplasmic sperm injection (ICSI) is an effective treatment modality for male factor infertility, but it could promote the transgenerational transmission of genetic defects causing gametogenic failure. Cytogenetic and molecular techniques permit the diagnosis of some infertility-causing genetic aberrations, but many more probably evade detection with currently available technology. The analysis of the recurrence pattern of infertility in infertile couples' families could define the importance of heritable factors in the pathogenesis of human infertility. We have subjected 621 consecutive infertile couples treated with ICSI in a single institution to a comprehensive genetic workup including documentation of the family history, karyotyping and various DNA tests. In all, 1302 fertile couples served as controls. Of the infertile couples 6.4% were shown to have a fertility problem with a definite genetic basis. Male, but not female fertility problems displayed a distinct pattern of familial aggregation. In addition, the infertile couples had fewer siblings than the fertile controls, a finding compatible with suboptimal fertility already among the infertile couples' parents. In summary, our data indicate that male factor infertility should be considered a potentially heritable condition. The recurrence risk for infertility in the offspring of couples treated with ICSI might be substantial.

Key words: family history/genetics/intracytoplasmic sperm injection/male infertility

4 To whom correspondence should be addressed at: Institute of Human Genetics of the University,Vesaliusweg 12–14, D-48149 Münster, Germany. E-mail:horstj{at}uni-muenster.de


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