Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Kongenitaler hypogonadotroper Hypogonadismus mit Anosmie 1

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.

Gliederung

Störungen der Sexualentwicklung
Aplasie des Müllerschen Ganges und Hyperandrogenismus
Denys-Drash-Syndrom
Hypogonadotropischer Hypogonadismus mit oder ohne Anosmie
Kongenitaler hypogonadotroper Hypogonadismus mit Anosmie 1
ANOS1
Kongenitaler hypogonadotroper Hypogonadismus ohne Anosmie 5
SERKAL-Syndrom

Referenzen:

1.

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2.

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3.

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24.

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39.

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40.

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41.

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43.

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