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Angeborener hypophysär bedingter hypogonadotroper Hypogonadismus und seltene Syndrome mit hypothalamisch u./o. hypophysär bedingtem Hypogonadismus

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Andrologie

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Zusammenfassung

Ein hypophysär bedingter hypogonadotroper Hypogonadismus tritt auf, wenn die pulsatile Freisetzung von LH und FSH aus den gonadotropen Zellen des Hypophysenvorderlappens in Antwort auf eine funktionell intakte hypothalamische GnRH-Stimulation quantitativ reduziert ist, ferner, wenn die ins Blut sezernierten Gonadotropine qualitativ verändert und daher unzureichend wirksam sind.

Angeborene Formen eines hypophysär bedingten Hypogonadismus, die aus einer Fehlentwicklung der Hypophyse und/oder aus einer Hypophysenstiel-Aplasie resultieren, sind regelhaft mit Beeinträchtigungen weiterer hypophysärer Achsen, insbesondere der somatotropen, thyreotropen und corticotropen, selten auch der lactotropen Achse assoziiert.

Peripartale Hypophysentraumata sind selten Ursache einer angeborenen multiplen hypophysären Insuffizienz mit Beteiligung der gonadotropen Achse.

Bei der X-chromosomalen Nebennierenhypoplasie, die durch eine Mutationen im DAX1(=NROB1)- Gen verursacht wird, findet sich neben einer frühkindlich symptomatisch werdenden Nebennierenrindeninsuffizienz eine Beeinträchtigung aller Ebenen der gonadotropen Achse.

Bei Syndromen mit hypogonadotropem Hypogonadismus führt eine chromosomale Veränderung oder eine Genmutation zu Syndrom-typischen Merkmalen. Hierunter findet sich auch eine Beeinträchtigung der zentralen hypothalamo-hypophysär-gonadalen Achse und ggf. auch eine zusätzliche primäre Beeinträchtigung der Hodenfunktion.

Beim Prader-Willi-Syndrom ist die zentrale und gonadale Ebene der gonadotropen Achse von einer Funktionsstörung betroffen.

Beim CHARGE-Syndrom liegt ein Hypogonadismus hypothalamischer Ursache vor.

Beim Bardet-Biedl-Syndrom liegt ein Hypogonadismus am ehesten kombiniert zentraler und gonadaler Ursache vor.

Beim Gordon-Holmes-Syndrom, Boucher-Neuhauser-Syndrom und Oliver-Mc-Farlane-Syndrom findet sich neben einer Kleinhirnataxie ein hypophysär bedingter hypogonadotroper Hypogonadismus.

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Authors and Affiliations

  1. Centrum für Reproduktionsmedizin und Andrologie, Klinische und Operative Andrologie, Universitätsklinikum Münster, Münster, Deutschland

    Julia Rohayem

  2. MVZ Endokrinologikum Hamburg; Zentrum für Hormon- und Stoffwechselerkrankungen, Reproduktionsmedizin und Pränatale Medizin, Hamburg, Deutschland

    Carl-Joachim Partsch

  3. Centrum für Reproduktionsmedizin und Andrologie, Universitätsklinikum Münster, Münster, Deutschland

    Eberhard Nieschlag

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Correspondence to Julia Rohayem .

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  1. Centrum für Reproduktionsmedizin und And, Universität Münster, Münster, Deutschland

    Eberhard Nieschlag

  2. Zentrum für Reproduktionsmedizin und And, Universität Halle-Wittenberg Universitätsklinikum Halle (Saale), Halle, Sachsen-Anhalt, Deutschland

    Hermann M. Behre

  3. Abt. Klinische/Operative Andrologie, Universitätsklinikum Münster, Münster, Nordrhein-Westfalen, Deutschland

    Sabine Kliesch

  4. Zentrum für Reproduktionsmedizin und And, Universitätsklinikum Münster, Münster, Deutschland

    Susan Nieschlag

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Rohayem, J., Partsch, CJ., Nieschlag, E. (2021). Angeborener hypophysär bedingter hypogonadotroper Hypogonadismus und seltene Syndrome mit hypothalamisch u./o. hypophysär bedingtem Hypogonadismus. In: Nieschlag, E., Behre, H.M., Kliesch, S., Nieschlag, S. (eds) Andrologie. Springer Reference Medizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-61904-9_13-1

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