Der kongenitale hypogonadotrope Hypogonadismus ohne/mit Anosmie 1 ist eine autosomal dominante Erkrankung, die durch Mutationen im KAL1(ANOS1)-Gen ausgelöst wird. Typisch eine fehlende Ausreifung der Sexualfunktion bei niedrigen Sexualhormonen (Gonadotropin und Testosteron). Eine Anosmie kann vorhanden sein und wird dann eher als Kallmann-Syndrom bezeichnet.
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OMIM.ORG article Omim 308700 |