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

Line Kenborg; Andreas Ebbehoj; Cecilie Ejerskov; Mette Møller Handrup; John R Østergaard; Hanne Hove; Karoline Doser; Anja Krøyer; John J Mulvihill; Jeanette F Winther; Kirstine Stochholm

doi:10.1093/ejendo/lvad101

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

Line Kenborg, Andreas Ebbehoj, Cecilie Ejerskov, Mette Møller Handrup, John R Østergaard, Hanne Hove, Karoline Doser, Anja Krøyer, John J Mulvihill, Jeanette F Winther, Kirstine Stochholm^*

^*Corresponding author for this work

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

Abstract

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.

Original language	English
Journal	European Journal of Endocrinology
Volume	189
Issue	2
Pages (from-to)	190-198
Number of pages	9
ISSN	0804-4643
DOIs	https://doi.org/10.1093/ejendo/lvad101
Publication status	Published - Aug 2023

Keywords

Adrenal Gland Neoplasms/complications
Cohort Studies
Diabetes Mellitus, Type 2/complications
Endocrine System Diseases/epidemiology
Female
Humans
Morbidity
Neurofibromatosis 1/epidemiology

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@article{c23cd5c1c1ff44318682fa4b34a6460b,

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

abstract = "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.",

keywords = "Adrenal Gland Neoplasms/complications, Cohort Studies, Diabetes Mellitus, Type 2/complications, Endocrine System Diseases/epidemiology, Female, Humans, Morbidity, Neurofibromatosis 1/epidemiology",

author = "Line Kenborg and Andreas Ebbehoj and Cecilie Ejerskov and Handrup, {Mette M{\o}ller} and {\O}stergaard, {John R} and Hanne Hove and Karoline Doser and Anja Kr{\o}yer and Mulvihill, {John J} and Winther, {Jeanette F} and Kirstine Stochholm",

note = "{\textcopyright} The Author(s) 2023. Published by Oxford University Press on behalf of European Society of Endocrinology. All rights reserved. For permissions, please e-mail: [email protected].",

year = "2023",

month = aug,

doi = "10.1093/ejendo/lvad101",

language = "English",

volume = "189",

pages = "190--198",

journal = "European Journal of Endocrinology",

issn = "0804-4643",

publisher = "Oxford University Press",

number = "2",

}

Endocrine morbidity in neurofibromatosis 1: a nationwide, register-based cohort study. / Kenborg, Line; Ebbehoj, Andreas ; Ejerskov, Cecilie et al.
In: European Journal of Endocrinology, Vol. 189, No. 2, 08.2023, p. 190-198.

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

TY - JOUR

T1 - Endocrine morbidity in neurofibromatosis 1

T2 - a nationwide, register-based cohort study

AU - Kenborg, Line

AU - Ebbehoj, Andreas

AU - Ejerskov, Cecilie

AU - Handrup, Mette Møller

AU - Østergaard, John R

AU - Hove, Hanne

AU - Doser, Karoline

AU - Krøyer, Anja

AU - Mulvihill, John J

AU - Winther, Jeanette F

AU - Stochholm, Kirstine

PY - 2023/8

Y1 - 2023/8

N2 - 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.

AB - 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.

KW - Adrenal Gland Neoplasms/complications

KW - Cohort Studies

KW - Diabetes Mellitus, Type 2/complications

KW - Endocrine System Diseases/epidemiology

KW - Female

KW - Humans

KW - Morbidity

KW - Neurofibromatosis 1/epidemiology

U2 - 10.1093/ejendo/lvad101

DO - 10.1093/ejendo/lvad101

M3 - Journal article

C2 - 37542520

SN - 0804-4643

VL - 189

SP - 190

EP - 198

JO - European Journal of Endocrinology

JF - European Journal of Endocrinology

IS - 2

ER -

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

Abstract

Keywords

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