Dipartimento della Donna, del Bambino e di Chirurgia Generale e Specialistica, Università degli studi della Campania "Luigi Vanvitelli", Naples, Italy.
Dipartimento di Scienze Mediche, Chirurgiche, Neurologiche, Metaboliche e dell'Invecchiamento, Università della Campania "Luigi Vanvitelli", Naples, Italy.
J Clin Endocrinol Metab. 2020 Jun 1;105(6). doi: 10.1210/clinem/dgaa138.
Up to 20% of children with neurofibromatosis type 1 (NF1) develop low-grade optic pathway gliomas (OPGs) that can result in endocrine dysfunction. Data on prevalence and type of endocrine disorders in NF1-related OPGs are scarce.
The aim of the study was to determine the prevalence of endocrine dysfunctions in patients with NF1 and OPGs and to investigate predictive factors before oncological treatment.
Multicenter retrospective study.
Records were reviewed for 116 children (64 females, 52 males) with NF1 and OPGs followed at 4 Italian centers.
We evaluated endocrine function and reviewed brain imaging at the time of OPG diagnosis before radio- and chemotherapy and/or surgery. OPGs were classified according to the modified Dodge classification.
Thirty-two children (27.6%) with a median age of 7.8 years had endocrine dysfunctions including central precocious puberty in 23 (71.9%), growth hormone deficiency in 3 (9.4%), diencephalic syndrome in 4 (12.5%), and growth hormone hypersecretion in 2 (6.2%). In a multivariate cox regression analysis, hypothalamic involvement was the only independent predictor of endocrine dysfunctions (hazard ratio 5.02 [1.802-13.983]; P = .002).
Endocrine disorders were found in approximately one-third of patients with Neurofibromatosis type 1 and OPGs before any oncological treatment, central precocious puberty being the most prevalent. Sign of diencephalic syndrome and growth hormone hypersecretion, although rare, could be predictive of optic pathway gliomas in NF1. Tumor location was the most important predictor of endocrine disorders, particularly hypothalamic involvement.
多达 20%的神经纤维瘤病 1 型（NF1）患儿会发生低级别的视神经胶质瘤（OPG），这可能导致内分泌功能障碍。关于 NF1 相关 OPG 中内分泌紊乱的患病率和类型的数据很少。
本研究旨在确定 NF1 伴 OPG 患者内分泌功能障碍的患病率，并探讨肿瘤治疗前的预测因素。
多中心回顾性研究。
对 4 家意大利中心随访的 116 名 NF1 伴 OPG 患儿（64 名女性，52 名男性）的记录进行了回顾。
我们评估了 OPG 诊断时的内分泌功能，并回顾了放化疗和/或手术前的脑成像。OPG 根据改良的 Dodge 分类进行分类。
32 名（27.6%）儿童存在内分泌功能障碍，中位年龄为 7.8 岁，其中包括中枢性性早熟 23 例（71.9%）、生长激素缺乏 3 例（9.4%）、间脑综合征 4 例（12.5%）和生长激素分泌过多 2 例（6.2%）。在多变量 cox 回归分析中，下丘脑受累是内分泌功能障碍的唯一独立预测因素（风险比 5.02[1.802-13.983]；P =.002）。
在接受任何肿瘤治疗之前，大约三分之一的 NF1 伴 OPG 患者存在内分泌紊乱，其中以中枢性性早熟最为常见。间脑综合征和生长激素分泌过多的表现虽然罕见，但可能预示着 NF1 中的视神经胶质瘤。肿瘤位置是内分泌紊乱最重要的预测因素，特别是下丘脑受累。
