medizinische genetik

, Volume 23, Issue 2, pp 254–258 | Cite as

Hypogonadotroper Hypogonadismus aufgrund eines IHH oder Kallmann-Syndroms beim Mann

Schwerpunkt

Zusammenfassung

Beim männlichen Geschlecht wird die Prävalenz des isolierten hypogonadatropen Hypogonadismus (IHH)/Kallmann-Syndroms auf etwa 1:10.000 geschätzt. Leitsymptom für den IHH ist die ausbleibende Pubertätsentwicklung in Kombination mit erniedrigten Gonadotropinen und einer verminderten Testosteronkonzentration. Wenn zusätzlich eine Anosmie/Hyposmie (in etwa 60% der Fälle) vorliegt, spricht man von einem Kallmann-Syndrom. IHH/Kallmann-Syndrom sind klinisch und genetisch sehr heterogene Krankheitsbilder. Die genetische Diagnostik und therapeutischen Möglichkeiten werden diskutiert.

Schlüsselwörter

Hypogonadotroper Hypogonadismus Kallmann-Syndrom Gonadotropine Leydig-Zellen Riechstörungen 

Hypogonadotropic hypogonadism due to IHH or Kallmann syndrome in males

Abstract

The prevalence of isolated hypogonadotropic hypogonadism (IHH)/Kallmann syndrome in males is about 1:10,000. IHH is characterized by absent sexual development and low levels of gonadotropins and testosterone. Kallmann syndrome is characterized by the association of HH and total or partial loss of olfaction (in 60%). IHH/Kallmann syndrome are very heterogeneous disorders. Clinical and genetic diagnosis as well as therapy will be discussed.

Keywords

Hypogonadotropic hypogonadism Kallmann syndrome Gonadotropins Leydig cells Olfaction disorders 

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Copyright information

© Springer-Verlag Berlin Heidelberg 2011

Authors and Affiliations

  • H.M. Behre
    • 1
  • F. Tüttelmann
    • 2
  • S. Ledig
    • 2
  • P. Wieacker
    • 2
  1. 1.Zentrum für Reproduktionsmedizin und AndrologieUniversitätsklinikum Halle (Saale)Halle (Saale)Deutschland
  2. 2.Institut für HumangenetikUniversitätsklinikum MünsterMünsterDeutschland

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