Increased serum FSH in female fragile X premutation carriers with either regular menstrual cycles or on oral contraceptives
Increased serum FSH in female fragile X premutation carriers with either regular menstrual cycles or on oral contraceptives
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DOI：
10.1093/humrep/16.3.457
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发表时间：
2001-03-01
影响因子：
6.1
通讯作者：
Thomas, CMG
中科院分区：
文献类型：
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作者：
Hundscheid, RDL;Braat, DDM;Thomas, CMG
脆弱X基因前突变被认为是卵巢功能在相对年轻时下降的危险因素，我们研究了有卵巢早衰（POF）风险的女性脆弱X家族成员（n = 79）的内分泌谱，其中79名女性年龄为40 IU/l，这是定义POF的阈值。我们证实，有月经周期的先兆突变携带者表现出卵巢功能不全。然而，我们也发现，尽管口服避孕药改变了内分泌，但在使用口服避孕药的先兆突变携带者中，存在未被识别的卵巢功能不全的内分泌征像。突变前携带者对未来妊娠的预后可能较差，无论是自然妊娠还是通过辅助生殖技术。我们建议，如果他们希望建立一个家庭，应该建议突变前携带者不要等待太久。
Fragile X premutations are known to be a risk factor for diminished ovarian function at a relatively young age, We studied endocrine profiles of female fragile X family members (n = 79) at risk of premature ovarian failure (POF), Of these 79 women aged 40 IU/l, the threshold that defines POF. We confirmed that premutation carriers with menstrual cycles demonstrate premature ovarian dysfunction, However, we also found endocrine signs of unrecognized ovarian dysfunction in premutation carriers using oral contraceptives, despite endocrine alterations by oral contraceptives. Premutation carriers may have a poorer prognosis for future pregnancy, either achieved spontaneously or by assisted reproductive technology. We recommend that premutation carriers should be counselled not to wait too long if they wish to start a family.