Human Reproduction, Vol. 16, No. 7, 1365-1371,
July 2001
© 2001 European Society of Human Reproduction and Embryology
Genetic sperm defects and consanguinity
1 Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Applied Biology, University of Siena, 2 C.N.R. Center for the Study of Germinal Cells, and 3 Regional Referential Center for Male Infertility, Azienda Ospedaliera Senese, Via T. Pendola, 62, 53100 Siena, Italy
BACKGROUND: The existence of a genetic component to human infertility has been suggested, although neither the specific abnormalities involved, nor their genetic mechanism of transmission, are currently defined. We have examined, by transmission electron microscopy (TEM), ejaculate from 1600 males with fertility problems. Among the subjects studied, we focused on a group of patients whose family histories revealed different degrees of consanguinity, in order to evaluate the relationship between consanguinity and particular sperm alterations. METHODS AND RESULTS: A total of 64 consanguineous individuals were identified. In this group, excluding two azoospermic patients, 17 patients (27%) were found to have well recognized genetic ultrastructural defects affecting their entire sperm population: eight subjects had spermatozoa with `stunted tails', four `detached tail' spermatozoa, two `Kartagener's syndrome', two `miniacrosome' and one `round headed' spermatozoa. Since these alterations affect the total sperm population and do not respond to medical treatment, they are suspected of having a genetic origin. The remaining group of 1506 non-consanguineous patients suffered from the same genetic defects in only 15 cases (<1%). CONCLUSIONS: From the data presented, it appears that some very peculiar and rare sperm defects may have a genetic basis since they occur more frequently in consanguineous patients, and are related to different degrees of consanguinity. Since the ejaculate of the remaining patients, both consanguineous and not, showed diverse types of ultrastructural sperm anomalies that did not affect the entire sperm population, they might represent pathologies lacking a genetic basis.
Key words: consanguinity/genetic defects/male infertility/spermatozoa/ultrastructure
4 To whom correspondence should be addressed at: Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Applied Biology, Via T. Pendola, 62, 53100 Siena, Italy. E-mail: baccetti{at}unisi.it
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