杜阿尔特半乳糖血症患者的卵巢功能。
Ovarian function in Duarte galactosemia.
机构信息
Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA.
出版信息
Fertil Steril. 2011 Aug;96(2):469-473.e1. doi: 10.1016/j.fertnstert.2011.05.088. Epub 2011 Jun 29.
OBJECTIVE
To determine if girls with Duarte variant galactosemia (DG) have an increased risk of developing premature ovarian insufficiency based on prepubertal anti-Müllerian hormone (AMH) levels.
DESIGN
Cross-sectional study.
SETTING
University research laboratory.
PATIENT(S): Study volunteers included 57 girls with DG, 89 girls with classic galactosemia (GG), and 64 control girls between the ages of <1 month and 10.5 years.
INTERVENTION(S): Blood sampling.
MAIN OUTCOME MEASURE(S): We determined AMH and FSH levels in study volunteers with and without Duarte variant or GG.
RESULT(S): FSH levels were significantly higher and AMH levels significantly lower in girls with GG than in age-stratified control girls, but there was no significant difference between FSH and AMH levels in girls with DG and control girls.
CONCLUSION(S): Although >80% of girls with GG in this study demonstrated low to undetectable AMH levels consistent with diminished ovarian reserve, 100% of girls with DG in our study demonstrated no apparent decrease in AMH levels or increase in FSH levels, suggesting that these girls are not at increased risk for premature ovarian insufficiency.
目的
根据青春期前抗苗勒管激素（AMH）水平，确定患有杜阿尔特变异型半乳糖血症（DG）的女孩是否有发生卵巢早衰的风险增加。
设计
横断面研究。
地点
大学研究实验室。
患者
研究志愿者包括 57 名患有 DG 的女孩、89 名患有经典半乳糖血症（GG）的女孩和 64 名年龄在<1 个月至 10.5 岁之间的对照组女孩。
干预
采血。
主要观察指标
我们在有和没有杜阿尔特变异或 GG 的研究志愿者中测定 AMH 和 FSH 水平。
结果
与按年龄分层的对照组女孩相比，GG 组女孩的 FSH 水平显著升高，AMH 水平显著降低，但 DG 组女孩与对照组女孩的 FSH 和 AMH 水平无显著差异。
结论
尽管本研究中超过 80%的 GG 组女孩表现出与卵巢储备减少一致的低至无法检测到的 AMH 水平，但我们研究中的 100% DG 组女孩的 AMH 水平或 FSH 水平均无明显下降，表明这些女孩发生卵巢早衰的风险没有增加。
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