Reproductive genetics. Genetic sperm defects and consanguinity

ISSN： 1460-2350

Source： Human Reproduction, Vol.16, Iss.7, 2001-07, pp. : 1365-1371

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Abstract

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.="">