4.6 Article

Endocrine morbidity in neurofibromatosis 1: a nationwide, register-based cohort study

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EUROPEAN JOURNAL OF ENDOCRINOLOGY
卷 189, 期 2, 页码 190-198

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OXFORD UNIV PRESS
DOI: 10.1093/ejendo/lvad101

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cohort study; endocrine disorders; neurofibromatosis 1; population-based

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This study provides a comprehensive overview of the risk for endocrine disorders in individuals with neurofibromatosis 1 (NF1) through analyzing hospital admissions, surgery, and medication data. It finds that NF1 patients have an increased risk in various endocrine disorders, surgeries, and medication use related to endocrine diseases.
Objective 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. Design A nationwide population registry-based cohort study. Methods 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. Results 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. Conclusions 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.

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