Abstract:RI~SUMI~Le syndrome de I'X fragile est lid a I'expansion d'une sequence rdp6titive de triplets CGG dans la rdgion 5' du gene FMR1. I! en resulte I'absence de production de la protdine FMRP par blocage de la transcription du g~ne FMRt. Nous rapportons une dtude hormonale, histologique et immunohistochimique d'un cas, centrde sur les functions testiculaires et I'origine du macroorchidisme.Le syndrome de I'X fragile s'accompagne d'une spermatogenese normale ou incomplete ou encore prdsentant des lesions aux stade… Show more
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