La génétique de la stérilité masculine

Abstract

About 15 % of couples world wide are affected by sterility problems. A substantial genetic component in male infertility is indicated by familial cases and de novo chromosomal rearrangements associated with the phenotype. Relatively little research has focused on the genetic aetiology of this frequent problem, whose the genetic causes are thus still unknown. Recent progress in understanding the genetics of meiosis in other organisms such as yeast and mice may permit the isolation of human homologous genes involved in this process. In this respect a number of homozygous null mutant mice (" knockout " mice) have been described where the only phenotypic abnormality is an absence of spermatogenesis. These genes represent excellent candidates for human male idiopathic infertility. Surprisingly, no gene mutations have been described in man that cause only a defect in spermatogenesis. A better understanding of the genetics of spermatogenesis should provide simple procedures to evaluate potential male carriers prior to expensive assisted reproductive techniques. It should also provide a knowledge-based approach to the management and treatment of male infertility. Such information should allow the development of effective fertility treatments, possibly through gene therapy, and of novel, reversible, male contraceptives.