Department of Pediatric and Adolescent Endocrinology, Jagiellonian University Collegium Medicum, Krakow, Poland.
Department of Pediatric and Adolescent Endocrinology, Uniwersytecki Szpital Dziecięcy w Krakowie, Poland.
Pediatr Endocrinol Diabetes Metab. 2020;26(2):84-88. doi: 10.5114/pedm.2020.95622.
Spontaneous puberty occurs in 30% of patients with Turner Syndrome. Its absence is an indication for hormone replacement therapy (HRT). No reliable markers of spontaneous puberty have been defined to date.
To evaluate the usefulness of antymüllerian hormone (AMH) and inhibin B assessment in predicting ovarian function and spontaneous puberty in girls with TS.
The study included 35 TS patients treated with human recombinant growth hormone (rhGH). Gonadal axis function parameters (LH, FSH and estradiol) were evaluated at the age of physiological puberty (10-12 years, mean 10.5 years), before introduction of HRT. Ad-ditionally AMH and inhibin B levels were assessed. In follow up patients were divided into 2 groups: with (SP) and without (WP) spontaneous puberty. Spontaneous puberty was defined as Tanner stage 2 or higher breast development.
WP patients were observed until the mean age of 16y. SP occurred in 16 patients (mean age 10 years). Patients with SP presented with significantly lower mean FSH level (1.14-91.1 mIU/ml, mean mIU/ml 24.5 vs. 7.7-196.4 mIU/ml, mean 66.5 mIU/ml, p = 0.002), higher mean estradiol (10.5-68.8 pg/ml, mean 28.4 pg/ml vs. 6.1-26.0 pg/ml, mean 14.9 pg/ml, p = 0.005), AMH (0.0-3.11 ng/ml, mean 0.8 ng/ml vs. 0.0-0.002 ng/ml, mean 0.003 ng/ml, p = 0.001) and inhibin B (0.0-110.0 pg/ml, mean 29.1 pg/ml vs. 0.0-11.0 pg/ml, mean 1.06 pg/ml, p = 0.026) levels. In three SP patients without elevated FSH level (FSH < 35 mIU/ml) we found zero concen-tration levels of AMH and inhibin B. SP patients had mosaic (non 45,X) karyotype in 87.5% and WP patients only in 47%.
AMH and inhibin B assessment may be a valuable complement to the diagnosis of ovarian function in patients with TS. Low levels of these parameters may indicate a risk of ovarian failure even in patients with spontaneous puberty and without hypergonadotropic hy-pogonadism.
特纳综合征患者中有 30%会出现自发性青春期。其缺失是激素替代疗法（HRT）的指征。迄今为止，尚无可靠的标记物可用于预测自发性青春期。
评估抗缪勒管激素（AMH）和抑制素 B 在预测特纳综合征（TS）女孩的卵巢功能和自发性青春期中的作用。
该研究纳入了 35 名接受人重组生长激素（rhGH）治疗的 TS 患者。在开始 HRT 之前，在生理青春期（10-12 岁，平均 10.5 岁）评估性腺轴功能参数（LH、FSH 和雌二醇）。此外，还评估了 AMH 和抑制素 B 水平。在随访中，患者被分为两组：有（SP）和无（WP）自发性青春期。自发性青春期定义为乳房发育达到 Tanner 2 期或更高阶段。
WP 患者观察至平均 16 岁。SP 发生在 16 名患者中（平均年龄 10 岁）。SP 患者的 FSH 水平明显较低（1.14-91.1 mIU/ml，平均 mIU/ml 24.5 vs. 7.7-196.4 mIU/ml，平均 66.5 mIU/ml，p=0.002），雌二醇水平较高（10.5-68.8 pg/ml，平均 28.4 pg/ml vs. 6.1-26.0 pg/ml，平均 14.9 pg/ml，p=0.005），AMH（0.0-3.11 ng/ml，平均 0.8 ng/ml vs. 0.0-0.002 ng/ml，平均 0.003 ng/ml，p=0.001）和抑制素 B（0.0-110.0 pg/ml，平均 29.1 pg/ml vs. 0.0-11.0 pg/ml，平均 1.06 pg/ml，p=0.026）水平较高。在 3 名 FSH 水平未升高（FSH<35 mIU/ml）的 SP 患者中，我们发现 AMH 和抑制素 B 的浓度均为零。SP 患者中有 87.5%为镶嵌（非 45，X）核型，WP 患者中仅有 47%为镶嵌核型。
AMH 和抑制素 B 的评估可能是对 TS 患者卵巢功能诊断的有价值的补充。这些参数的低水平可能表明即使在有自发性青春期且无促性腺激素性性腺功能减退的患者中，也存在卵巢衰竭的风险。
