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CC BY-NC-ND 4.0 · Avicenna J Med 2022; 12(01): 016-020
DOI: 10.1055/s-0041-1742197
Original Article

Prevalence of Associated Endocrine Diseases in Patients with Neurofibromatosis Type 1

Aysha Alshahrani
1   Family Medicine Department, King Fahad Medical City, Riyadh, Saudi Arabia
,
Zainah Abuoliat
2   Dermatology Department, King Salman bin AbdulAziz Hospital, Riyadh, Saudi Arabia
,
Awad Saad Alshahrani
3   Division of Adult Endocrinology, Department of Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia
4   College of Medicine, King Saud bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center, Riyadh, Saudi Arabia
,
Mohammed Ali Al Balwi 
4   College of Medicine, King Saud bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center, Riyadh, Saudi Arabia
5   Division of Molecular pathology section, Department of Pathology, King Abdulaziz Medical City, Riyadh, Saudi Arabia
› Author Affiliations Funding None.
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Abstract

Background Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous disorder that increases the risk of developing benign and malignant tumors. Several associated endocrine diseases in NF-1 patients have been explained in the literature. Thus, this study aims to assess the endocrine manifestations as there no previous local data have discussed this association.

Methods A retrospective cross-sectional study was conducted at KAMC and KASCH, Riyadh, Saudi Arabia by including all patients genetically confirmed with NF1 from 2004 until 2019 using a consecutive non-probability sampling technique. The included data were demographics, consanguinity, genetic variant mutations as well as associated endocrine diseases.

Results The prevalence of patients with associated endocrine diseases was estimated to be 19.4%. Short stature showed the highest frequency of associated endocrine diseases followed by subclinical hypothyroidism. Positive consanguinity, sporadic mutation, and pathogenic variant showed high frequencies.

Conclusion The coexistence of endocrine diseases was found in NF-1 patients. Therefore, screening for endocrine abnormality in patients with NF-1 by comprehensive history and physical exam as well as investigations to minimize complications and the late presentation should be considered; however, further studies are necessary to address the need.

Keywords

neurofibromatosis type 1 - endocrine diseases - NF-1

IRB Approval Status

This study was reviewed and approved by the institutional ethics committee at King Abdullah International Medical Research Center (RC19/306/R).




Publication History

Article published online:
18 February 2022

© 2022. Syrian American Medical Society. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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