Article

L’infertilité masculine: Nos connaissances ne doivent pas faire oublier notre ignorance

Université Paris V INSERUM U567, Institut Cochin Paris France; Hôpital Cochin Laboratoire de Biochimie et génétique Moléculaire 123 boulevard de Port-Royal. 75014 Paris France
Andrologie 13(2):158-160. DOI: 10.1007/BF03034430

ABSTRACT Environ 15% des couples dans le monde sont concernés par des problèmes de procréation. Dans 20% des cas, c’est l’homme seul
qui est en cause. Dans 20% de ces cas, une cause génétique peut être identifiée. Les principales causes peuvent se classer
en trois grandes catégories: i) les anomalies chromosomiques, ii) les microdélétions du bras long du chromosomes Y et iii)
les mutations du gèneCFTR. Toutefois, malgré les progrès considérables réalisés au cours de ces dernières années, la cause de l’infertilité est ignorée
dans un grand nombre de cas. Le développement des stratégies gène candidat, les analyses de liaison généntique dans des formes
familiales d’infertilité masculine, la création de modèles animaux ainsi que les études du remodelage de la chromatine au
cours de la spermiogénèse devraient permettre d’identifier à court terme de nouveaux facteurs généntiques, qui chez l’homme
sont à l’origine de stérilité.
About 15% of couples worldwide are affected by reduced fertility. In 20% of cases of couple infertility, the problem can be
predominantly attributed to the male. In 20% of cases, a genetic cause of male infertility can usually be identified. The
main genetic causes are: autosomal and sex chromosomal abnormalities, microdeletions within regions of the Y-chromosome containing
candidate gene families for spermatogenesis and mutations in theCFTR gene. However, despite enormous progress in the understanding of human reproductive physiology, the underlying cause of male
infertility often cannot be elucidated. Candidate gene strategies, linkage analysis in large familial forms of male infertility,
targeted mutagenesis in the mouse and studies of chromatin reorganization during spermatid maturation should provide rapid
progress in our understanding of the genetic factors that contribute to male infertility, which may open up new approaches
to the treatment of this condition.

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