Childhood Cancer Research Group, Danish Cancer Society Research Center, 2100 Copenhagen E, Denmark.
Department of Endocrinology and Internal Medicine, Aarhus University Hospital, 8200 Aarhus N, Denmark.
Eur J Endocrinol. 2023 Aug 2;189(2):190-198. doi: 10.1093/ejendo/lvad101.
Previous studies have found that neurofibromatosis 1 (NF1) is associated with an increased risk for endocrine disorders, but no comprehensive overview of the risk for specific endocrine disorders has been published. We assessed endocrine morbidity in individuals with NF1 from information on hospital admissions, surgery for endocrine disorders, and relevant medication.
A nationwide population registry-based cohort study.
We identified 2467 individuals with NF1 diagnosed between 1977 and 2013 from the Danish National Patient Register and the RAREDIS database and 20 132 randomly sampled age- and sex-matched population comparisons. Information on endocrine diseases was identified using registrations of discharge diagnoses, surgery, and medication prescriptions. The rates of endocrine disorders in individuals with NF1 were compared with those in the comparison cohort in Cox proportional hazard models.
Individuals with NF1 had a higher rate than the comparison group of any endocrine discharge diagnosis (hazard ratio [HR] 1.72, 95% confidence interval [CI]: 1.58-1.87), endocrine-related surgery (2.03, 1.39-2.96), and prescribed medications (1.32, 1.23-1.42). Increased HRs were observed for diseases and surgical operations of several glands, including pheochromocytoma, and for osteoporosis, and osteoporotic fractures. Decreased rates were observed with drugs for type 2 diabetes. Women with NF1 had higher HRs for surgery of the ovaries, uterus, and sterilization, but lower rates of surgeries of cervix and prescriptions for birth control pills.
Neurofibromatosis 1 is associated with a variety of endocrine disorders, surgery, and medication related to endocrine disease. Awareness of endocrine morbidity is important in the clinical follow-up of individuals with NF1.
先前的研究发现，神经纤维瘤病 1 型（NF1）与内分泌疾病风险增加相关，但尚未发表有关特定内分泌疾病风险的综合概述。我们评估了 NF1 个体的内分泌发病率，这些信息来自住院、内分泌疾病手术和相关药物的信息。
一项基于全国人群登记的队列研究。
我们从丹麦国家患者登记处和 RAREDIS 数据库中确定了 2467 名在 1977 年至 2013 年间诊断为 NF1 的个体，并与 20132 名年龄和性别匹配的随机抽样人群进行了比较。使用出院诊断、手术和药物处方的登记来确定内分泌疾病信息。使用 Cox 比例风险模型比较 NF1 个体的内分泌疾病发生率与对照组的发生率。
NF1 个体的任何内分泌疾病出院诊断率（危险比 [HR] 1.72，95%置信区间 [CI]：1.58-1.87）、内分泌相关手术率（2.03，1.39-2.96）和处方药物率（1.32，1.23-1.42）均高于对照组。观察到几种腺体疾病和手术的 HR 升高，包括嗜铬细胞瘤，以及骨质疏松症和骨质疏松性骨折。2 型糖尿病药物的使用率降低。NF1 女性的卵巢、子宫和绝育手术的 HR 较高，但宫颈手术和避孕药处方的比率较低。
神经纤维瘤病 1 型与多种内分泌疾病、与内分泌疾病相关的手术和药物治疗有关。在 NF1 个体的临床随访中，应注意内分泌发病率。
