Abstrait
La différenciation sexuelle et la fécondité masculines sont le résultat d’une cascade de signaux qui inclut des facteurs cellulaires, génétiques et endocriniens. Les manifestations cliniques des anomalies du développement sexuel masculin sont l’hypogonadisme, l’inversion sexuelle et l’état intersexué. Elles peuvent être dues à des anomalies de la détermination et de la différenciation des gonades, à des troubles de la régulation hypothalamo-hypophyso-gonadique et de la biosynthèse des hormones stéroïdes, à des syndromes d’insensibilité aux hormones et à des anomalies des voies d’excrétion. Après l’examen clinique, un bilan endocrinologique est nécessaire pour distinguer l’hypogonadisme hypergonadotrophique de l’insuffisance gonadique primaire, de l’hypogonadisme hypogonadotrophique des troubles pituitaires et hypothalamiques. Le bilan génétique comprend l’analyse des chromosomes, et pour un nombre croissant d’anomalies un dépistage est aujourd’hui possible, par génétique moléculaire. Dans de nombreux cas, notamment ceux d’inversion sexuelle et d’état intersexué, une approche interdisciplinaire du diagnostic et du traitement est nécessaire.
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Wieacker, P. et al. (2008). Mécanismes des dysfonctions et pathologies. In: Schill, WB., Comhaire, F., Hargreave, T.B. (eds) Traité d’andrologie à l’usage des cliniciens. Springer, Paris. https://doi.org/10.1007/978-2-287-72080-2_19
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DOI: https://doi.org/10.1007/978-2-287-72080-2_19
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