Sawyer Alexandra, Bothwell Samantha, Swenson Karli, Travers Sharon, Davis Shanlee
Department of Pediatrics, Section of Endocrinology, 129263 University of Colorado SOM , Aurora, CO, USA.
eXtraOrdinarY Kids Clinic and Research Program, Children's Hospital Colorado, Aurora, CO, USA.
J Pediatr Endocrinol Metab. 2025 Apr 29. doi: 10.1515/jpem-2024-0523.
Hypergonadotropic hypogonadism is a characteristic clinical manifestation of Turner syndrome (TS). While up to 30 and 20 % of people with TS will have spontaneous thelarche and menarche respectively, there is a lack of evidence to predict who will retain sufficient ovarian function to achieve these outcomes. The aim of this study was to determine if follicle-stimulation hormone (FSH) and/or luteinizing hormone (LH) concentrations measured in infancy would accurately predict later spontaneous thelarche or menarche.
Patients with a diagnosis of Turner syndrome with FSH and/or LH clinically measured prior to three years of age and now ≥10 years of age with documented pubertal assessment were included (n=33). Differences in infant gonadotropin values were determined for patients with vs. without spontaneous thelarche/menarche using Kruskal-Wallis tests. The optimal threshold of infant LH and FSH to predict spontaneous thelarche and menarche was then determined by maximizing the sum of sensitivity and specificity.
The prevalence of spontaneous thelarche and menarche were 21.2 and 15.2 % respectively. An infant LH value greater than 0.5 mIU/mL predicted lack of spontaneous thelarche with an estimated accuracy of 94 % and lack of spontaneous menarche with an estimated accuracy of 96 %. An infant FSH value greater than 37.4 mIU/mL predicted lack of lack of spontaneous thelarche with an accuracy of 97 % and lack of spontaneous menarche with an accuracy of 100 %.
Infant gonadotropin concentrations accurately predict spontaneous later thelarche and menarche for persons with TS.
高促性腺激素性性腺功能减退是特纳综合征（TS）的典型临床表现。虽然分别有高达30%和20%的TS患者会出现自然乳房发育和月经初潮，但缺乏证据来预测谁将保留足够的卵巢功能以实现这些结果。本研究的目的是确定婴儿期测量的促卵泡生成素（FSH）和/或促黄体生成素（LH）浓度是否能准确预测 later自然乳房发育或月经初潮。
纳入诊断为特纳综合征且在3岁前临床测量过FSH和/或LH、目前年龄≥10岁且有青春期评估记录的患者（n = 33）。使用Kruskal-Wallis检验确定有或无自然乳房发育/月经初潮的患者在婴儿期促性腺激素值的差异。然后通过最大化敏感性和特异性之和来确定预测自然乳房发育和月经初潮的婴儿LH和FSH的最佳阈值。
自然乳房发育和月经初潮的发生率分别为21.2%和15.2%。婴儿LH值大于0.5 mIU/mL预测缺乏自然乳房发育，估计准确率为94%，预测缺乏自然月经初潮，估计准确率为96%。婴儿FSH值大于37.4 mIU/mL预测缺乏自然乳房发育的准确率为97%，预测缺乏自然月经初潮的准确率为100%。
婴儿促性腺激素浓度可准确预测TS患者日后的自然乳房发育和月经初潮。
