Chromosome abnormalities and male sterility
Zuffardi, O.; Maraschio, P.; Pasquali, F.
Journal de Genetique Humaine 23(Suppl): 136
1975
ISSN/ISBN: 0021-7743 PMID: 1214147 Document Number: 83559
A study of the caryotype in 281 cases of male secretory sterility. Chromosomal anomalies were found in 81 cases, i.e. 78 cases, of azoospermia, 3 cases of oligospermia. Barr bodies were found in 66 cases of Klinefelter syndrome or one of its varieties. In the remaining 15 cases, there was no Barr chromatin: 7 of them bore gonosomal abnormalities with or without mosaicism. In 8 cases reciprocal translocations were found: in 2 of them a sexual chromosome was involved. The high rate of chromosomal anomalies should be stressed: every male secretory sterility, especially with azoospermia, warrants a chromosomal study. In the group of translocations, FSH and LH rates are not elevated in spite of the existence of azoospermia, whereas they are consistently increased in all the other chromosomal abnormalities: this so far undescribed phenomenon has no present explanation. The role played by translocations in male secretory sterility, although difficult to understand, is well documented, since translocations occur ten times more frequently in male sterility than in the general population.