[A clinico-genetic study of male infertility with globozoospermia]

Eight patient with male infertility due to isolated or combined with other defects anomaly--round-headed spermatozoa, have been studied. Five of them have been studied. Five of the patients have been sporadic cases, whereas three cases have been familial ones. 100% of the spermatozoa in ejaculates from the patients with familial infertility had morphology of round-headed spermatozoa with lack of any proteolytic activity. In the patients with sporadic infertility the round-headed spermatozoa represented between 60 and 95% of the ejaculated cells. All of the patients were studied by chromosomal analyses (G-banding) and revealed normal male karyotypes 46, XY. The ratio affected: unaffected males in the 8 families studied implicates a monogenetic mode of inheritance (Coefficient of heredity 0.57) of the sperm anomaly. The distribution of the affected males in the three pedigrees with familial character of globozoospermia supports X-linked, sex-restricted dominant, or autosomal recessive modes of inheritance.