目的 研究特纳综合征（Turner syndrome, TS）患儿血清抗米勒管激素（anti‑Müllerian hormone, AMH）、抑制素B（inhibin‑B, INHB）水平，以及其评估卵巢储备功能的价值。 方法 回顾性分析79例TS患儿（单体组、嵌合体组、其他核型组）及50例健康女童（对照组）的临床资料。比较组间差异，分析AMH、INHB与性激素、卵巢容积及自发性青春期的相关性，采用受试者操作特征曲线评估AMH、INHB预测卵巢储备的效能。 结果 TS组AMH、INHB水平及卵巢/子宫体积显著低于对照组（P<0.001），卵泡刺激素显著高于对照组（P<0.001）。嵌合体组AMH、INHB水平显著高于单体组和其他核型组（P<0.05）。有自发性青春期者AMH、INHB水平更高（P<0.05）。AMH与黄体生成素、卵泡刺激素呈负相关（P<0.05），与卵巢容积呈正相关（P<0.05）。AMH预测卵巢储备的曲线下面积为0.748（95%CI：0.615~0.853，P<0.001），最佳截断值为0.225 ng/mL，特异度为95.5%；INHB的曲线下面积为0.659（95%CI：0.521~0.787，P=0.015）。 结论 TS患儿血清AMH、INHB水平与核型及自发性青春期相关。AMH是评估TS患儿卵巢储备功能的较优指标。
Objective To determine serum anti-Müllerian hormone (AMH) and inhibin-B (INHB) levels in children with Turner syndrome (TS) across different karyotypes, and to assess their value in ovarian reserve assessment. Methods Clinical data of 79 girls with TS (divided into monosomy, mosaic, and other karyotype groups) and 50 healthy girls (control group) were retrospectively analyzed. Differences among groups were compared. Correlations of AMH and INHB with sex hormones, ovarian volume, and spontaneous puberty were analyzed. Receiver operating characteristic (ROC) curves were used to evaluate the predictive efficacy of AMH and INHB for ovarian reserve function. Results Serum AMH and INHB levels, as well as ovarian and uterine volumes, were significantly lower in the TS group than in the control group (P<0.001), while follicle-stimulating hormone (FSH) levels were significantly higher (P<0.001). The mosaic group had significantly higher AMH and INHB levels than the monosomy and other karyotype groups (P<0.05). Girls with spontaneous puberty showed higher AMH and INHB levels than those without (P<0.05). AMH levels were negatively correlated with luteinizing hormone (LH) and FSH (P<0.05), and positively correlated with ovarian volume (P<0.05). The area under the ROC curve of AMH for predicting ovarian reserve function was 0.748 (95%CI: 0.615-0.853, P<0.001), with an optimal cutoff value of 0.225 ng/mL and specificity of 95.5%. The area under the ROC curve of INHB was 0.659 (95%CI: 0.521-0.787, P=0.015). Conclusions Serum AMH and INHB levels in children with TS correlate with karyotype and spontaneous puberty. AMH is a superior indicator for assessing ovarian reserve function in these children.
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