Messina Maria Francesca, Aversa Tommaso, Salzano Giuseppina, Costanzo Daria, Sferlazzas Concetta, Mirabelli Silvestro, Zirilli Giuseppina, Lombardo Fortunato
J Pediatr Endocrinol Metab. 2015 Nov 1;28(11-12):1209-14. doi: 10.1515/jpem-2014-0229.
Primary gonadal failure may occur in most individuals with Turner syndrome (TS). Since ovaries in TS girls undergo premature apoptosis and cryopreservation of ovarian tissue is now feasible, it would be useful to identify a reliable marker of ovarian reserve in these patients. We planned to evaluate ovarian function in a group of TS patients by measuring both traditional markers and inhibin B and to compare these results with those of a control group.
We enrolled 23 patients with TS and 17 age-matched healthy girls. The median age of our TS patients was 17.6 years. Three out of the 23 patients (13%) showed spontaneous pubertal development and regular menstrual cycles; the remaining 20 (86.9%) presented with primary amenorrhea.
The median level of inhibin B in the TS patients with primary amenorrhea was 42 pg/mL and did not differ significantly among the different subgroups in relation to karyotype. The median inhibin B level in the control group was significantly higher than in the TS girls with primary amenorrhea (83 vs. 42 pg/mL, p<0.00001). In the three patients with TS and spontaneous menstrual cycles, the inhibin B levels were significantly higher when compared to the values of the TS girls with primary amenorrhea.
TS patients with primary amenorrhea have significantly lower levels of inhibin B than TS girls with spontaneous puberty and healthy controls. Inhibin B does not correlate with follicle-stimulating hormone/luteinizing hormone. If our results are confirmed in further studies, inhibin B could become a first-line screening test for assessing ovarian reserve and a longitudinal marker of the possible decline of ovarian function in TS.
大多数特纳综合征(TS)患者可能会出现原发性性腺功能衰竭。由于TS女孩的卵巢会过早发生凋亡,且卵巢组织冷冻保存目前已可行,因此识别这些患者卵巢储备的可靠标志物将很有帮助。我们计划通过测量传统标志物和抑制素B来评估一组TS患者的卵巢功能,并将这些结果与对照组进行比较。
我们纳入了23例TS患者和17例年龄匹配的健康女孩。我们的TS患者中位年龄为17.6岁。23例患者中有3例(13%)出现自发性青春期发育且月经周期规律;其余20例(86.9%)表现为原发性闭经。
原发性闭经的TS患者中抑制素B的中位水平为42 pg/mL,在不同核型亚组之间无显著差异。对照组中抑制素B的中位水平显著高于原发性闭经的TS女孩(83 vs. 42 pg/mL,p<0.00001)。在3例有自发性月经周期的TS患者中,抑制素B水平与原发性闭经的TS女孩相比显著更高。
原发性闭经的TS患者抑制素B水平显著低于有自发性青春期的TS女孩和健康对照。抑制素B与促卵泡激素/促黄体生成素无关。如果我们的结果在进一步研究中得到证实,抑制素B可能成为评估卵巢储备的一线筛查试验以及TS患者卵巢功能可能下降的纵向标志物。