Nguyên nhân di truyền của đợt suy buồng trứng sớm và chứng loạn sản buồng trứng

Susanne Ledig1, Peter Wieacker1
1Aff1_270 grid.5949.1 0000000121729288 Institut für Humangenetik, Universitätsklinikum Münster Westfälische Wilhelms-Universität Vesaliusweg 12–14 48149 Münster Deutschland

Tóm tắt

Tóm tắt

Suy buồng trứng sớm (POI) được đặc trưng bởi tình trạng không có kinh nguyệt trước tuổi 40 và hypogonadismus hypergonadotrop. Tỷ lệ xảy ra ở phụ nữ 40 tuổi là 1%. Chứng loạn sản buồng trứng, được đặc trưng bởi sự mất hoàn toàn nang trứng trước khi sinh, có thể được coi là biểu hiện nặng nhất của POI. POI thường xảy ra một cách đơn độc, nhưng cũng có thể là một phần của các bệnh lý hội chứng. Ngoài các yếu tố ngoại lai, còn có các yếu tố di truyền như bất thường nhiễm sắc thể, các khiếm khuyết đơn gen và cơ chế sinh polygen - đa yếu tố có thể xảy ra. Hiện tại, đã có hơn 30 gen được biết đến có đột biến dẫn đến POI. Tuy nhiên, trong đa số các trường hợp, nguyên nhân gây ra POI vẫn chưa được biết đến.

Từ khóa

#suy buồng trứng sớm #chứng loạn sản buồng trứng #di truyền #yếu tố ngoại lai #nguyên nhân.

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