Bione S, Toniolo D
Institute of Genetics, Biochemistry, and Evolution, Consiglio Nazionale delle Ricerche, Pavia, Italy.
Semin Reprod Med. 2000;18(1):51-7. doi: 10.1055/s-2000-13475.
Premature ovarian failure (POF) is a disorder characterized by lack of ovulation and elevated levels of serum gonadotropins before the age of 40. The etiology of POF is not known but different environmental and genetic factors are involved, suggesting high heterogeneity of the disorder. The involvement of X-linked genes in the etiology of POF was hypothesized on the basis of its frequent association with chromosomal rearrangements and monosomies. In recent years a number of genes were described. Two genes, FRAXA and POF1B, have been formally demonstrated to be responsible for POF. Other genes have been proposed as candidates, but their role remains to be demonstrated.
卵巢早衰（POF）是一种以40岁前无排卵和血清促性腺激素水平升高为特征的疾病。POF的病因尚不清楚，但涉及不同的环境和遗传因素，这表明该疾病具有高度异质性。基于POF常与染色体重排和单体性相关联，推测X连锁基因参与了POF的病因。近年来，已描述了许多基因。FRAXA和POF1B这两个基因已被正式证明与POF有关。其他基因已被提出作为候选基因，但其作用仍有待证实。
