Endocrine morbidity in neurofibromatosis 1: a nationwide, register-based cohort study
Authors' conclusion
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.
Study context
- Population
- Individuals with neurofibromatosis 1 diagnosed 1977–2013 in Denmark and matched population comparisonsmatched cohort
- Participants
- 2,467 vs 20,132
- Exposure
- NF1 vs age- and sex-matched population comparisons
- NF1n = 2,467
- Comparisonsn = 20,132reference
- Outcome
- Endocrine morbidity: endocrine discharge diagnoses, endocrine-related surgery and relevant medication prescriptions
Methodological detailsage- and sex-matched population comparisons, Cox proportional hazard models
- Age- and sex-matched population comparisons
- Cox proportional hazard models
Main finding
As reported in the abstract
NF1 vs ComparisonsHazard ratio (95% CI)
Any endocrine discharge diagnosis
1.72(1.58–1.87)
Endocrine-related surgery
2.03(1.39–2.96)
Prescribed medications
1.32(1.23–1.42)
Observational data: associations, not effects.
Further findings
Specific glands and bone
- Increased HRs for diseases and surgical operations of several glands, including pheochromocytoma, and for osteoporosis and osteoporotic fractures
- Decreased rates with drugs for T2D
Women with NF1
- Higher HRs for surgery of ovaries, uterus and sterilization; lower rates of cervix surgery and birth control pill prescriptions
Original publication
Endocrine morbidity in neurofibromatosis 1: a nationwide, register-based cohort study. Eur J Endocrinol. Published 5 August 2023. doi:10.
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