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Genetische Ursachen der prämaturen Ovarialinsuffizienz und Ovardysgenesie

Genetic causes of premature ovarian insufficiency and ovarian dysgenesis

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medizinische genetik

Zusammenfassung

Die prämature Ovarialinsuffizienz (POI) ist durch eine Amenorrhö vor dem 40. Lebensjahr und einen hypergonadotropen Hypogonadismus gekennzeichnet. Die Prävalenz für Frauen mit 40 Jahren liegt bei 1%. Die Ovardysgenesie, welche durch einen kompletten Follikelverlust vor der Geburt charakterisiert ist, kann als die schwerste Manifestation einer POI angesehen werden. Die POI tritt in der Mehrzahl isoliert auf, kann aber auch Teil einer syndromalen Erkrankung sein. Neben exogenen Faktoren kommen auch genetische Faktoren wie Chromosomenaberrationen, monogenetische Defekte und eine polygen-multifaktorielle Genese in Frage. Inzwischen sind mehr als 30 Gene bekannt, deren Mutationen zur POI führen. Dennoch ist in der Mehrzahl der Fälle die Ätiologie der POI weiterhin unbekannt.

Abstract

Premature ovarian insufficiency (POI) is characterized by the onset of amenorrhea before 40 years of age combined with hypergonadotropic hypogonadism. The prevalence in women aged 40 is 1%. Ovarian dysgenesis is characterized by full depletion of follicles at birth and can be seen as the most severe manifestation of POI. In most cases POI occurs as an isolated condition but can also be part of a syndrome. Besides non-genetic factors POI can also be caused by chromosome aberrations, monogenetic defects and polygenic multifactorial inheritance. Although more than 30 genes associated with POI are known in the majority of cases the etiology of POI remains unknown.

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Danksagung

Diese Arbeit wurde durch die Deutsche Forschungsgemeinschaft (DFG) „Germ Cell Potential“ gefördert.

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  1. Institut für Humangenetik, Universitätsklinikum Münster, Westfälische Wilhelms-Universität, Vesaliusweg 12–14, 48149, Münster, Deutschland

    S. Ledig & P. Wieacker

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  2. P. Wieacker
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Correspondence to S. Ledig.

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Ledig, S., Wieacker, P. Genetische Ursachen der prämaturen Ovarialinsuffizienz und Ovardysgenesie. medgen 23, 237–243 (2011). https://doi.org/10.1007/s11825-011-0270-3

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