Cambiaso Paola, Galassi Stefania, Palmiero Melania, Mastronuzzi Angela, Del Bufalo Francesca, Capolino Rossella, Cacchione Antonella, Buonuomo Paola S, Gonfiantini Michaela V, Bartuli Andrea, Cappa Marco, Macchiaiolo Marina
Endocrinology and Diabetes Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
Neuroradiology Unit, Bambino Gesù Children Hospital, Imaging Department, IRCCS, Rome, Italy.
Am J Med Genet A. 2017 Sep;173(9):2353-2358. doi: 10.1002/ajmg.a.38308. Epub 2017 Jun 20.
In children with neurofibromatosis type 1 (NF1) and optic pathways glioma (OPG), growth hormone (GH) excess has been rarely reported and mainly associated to central precocious puberty. The aim of our study is to evaluate the prevalence of GH excess, the association with central precocious puberty, the relation with tumor site and the evolution over time in a large cohort of children with NF1 and OPG. Sixty-four NF1 children with OPG were evaluated. Patients with stature and/or height velocity >2 SD for age were studied for GH secretion. Seven out of 64 children (10.9%) with NF1 and optic pathways glioma showed GH excess, isolated in 5 cases and associated to central precocious puberty in 2. All the children with GH excess had a tumor involving the chiasma. Children with GH excess underwent medical treatment with lanreotide and a minimum clinical/biochemical follow up of 2 years is reported. The present study demonstrates that GH excess should be considered as a relative frequent endocrine manifestation in NF1 patients, similarly to central precocious puberty. Therefore, these patients should undergo frequent accurate auxologic evaluations. On the other hand, an increase in height velocity in children with NF1, even despite normal ophthalmological exams, can suggest the presence of OPG and therefore represents an indication to perform brain MRI.
在患有1型神经纤维瘤病（NF1）和视路胶质瘤（OPG）的儿童中，生长激素（GH）分泌过多的情况鲜有报道，且主要与中枢性性早熟相关。我们研究的目的是评估一大群患有NF1和OPG的儿童中GH分泌过多的患病率、与中枢性性早熟的关联、与肿瘤部位的关系以及随时间的演变情况。对64例患有OPG的NF1儿童进行了评估。对身高和/或身高增长速度高于年龄标准差2倍的患者进行了GH分泌研究。64例患有NF1和视路胶质瘤的儿童中有7例（10.9%）出现GH分泌过多，其中5例为单纯性，2例与中枢性性早熟相关。所有GH分泌过多的儿童都有累及视交叉的肿瘤。GH分泌过多的儿童接受了兰瑞肽药物治疗，并报告了至少2年的临床/生化随访情况。本研究表明，与中枢性性早熟类似，GH分泌过多应被视为NF1患者相对常见的内分泌表现。因此，这些患者应接受频繁而准确的体格检查评估。另一方面，NF1儿童即使眼科检查正常，但身高增长速度加快也可能提示存在OPG，因此这是进行脑部MRI检查的一个指征。
