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Les hypogonadismes hypogonadotrophiques congénitaux masculins, quelles données récentes ?

Male congenital hypogonadotropic hypogonadisms, any new recent data?

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Résumé

Les hypogonadismes hypogonadotrophiques congénitaux (HHC) sont un ensemble très hétérogène d’affections résultant d’un défaut de sécrétion des gonadotrophines hypophysaires en rapport avec un défaut de migration des neurones à GnRH ou secondaires à des anomalies organiques ou fonctionnelles de la commande hypothalamohypophysaire. Le déficit gonadotrope reste une cause rare d’hypogonadisme avec une prévalence mal précisée estimée à 1/5 000, il est responsable de manifestations cliniques en rapport avec la baisse de testostérone circulante variable en fonction de l’âge de leur expression. La classification des HHC, basée sur l’existence ou non d’anosmie, s’est enrichie ces deux dernières décennies par la découverte de nombreux gènes impliqués dans le développement et le fonctionnement de l’axe gonadotrope; cela a permis de mieux préciser les HHC et de proposer le conseil génétique dans les formes dominantes. Le but de ce travail est de faire le point sur les nouvelles connaissances qui ont permis de mieux préciser la physiopathologie et le cadre nosologique des HHC.

Abstract

Congenital hypogonadotropic hypogonadism (CHH) is a very heterogeneous group of disorders resulting from a deficiency of pituitary gonadotropin secretion that is related to defective migration of GnRH neurons or dysfunction of pituitary or hypothalamic system. Gonadotropin deficiency remains a rare cause of hypogonadism; its prevalence is not definitely established and is thought to be about 1/5,000. It is responsible for clinical symptoms that are related to low testosterone levels. The classification of CHH which was previously based on presence of or lack of anosmia has been enriched in the last two decades by the discovery of many genes involved. This allowed a better understanding of CHH and led to new approaches regarding genetic counselling.

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Correspondence to N. El Ansari.

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Ansari, N. Les hypogonadismes hypogonadotrophiques congénitaux masculins, quelles données récentes ?. Basic Clin. Androl. 21, 68–74 (2011) doi:10.1007/s12610-011-0127-2

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Mots clés

  • Hypogonadisme hypogonadotrophique
  • Axe gonadotrope
  • Déficit congénital

Keywords

  • Hypogonadotropic hypogonadism
  • Gonadotropic axis
  • Congenital defect