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DOI: 10.1055/s-0041-1742197
Prevalence of Associated Endocrine Diseases in Patients with Neurofibromatosis Type 1
Funding None.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.
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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References
- 1 van Lierop ZYGJ, Jentjens S, Anten MHME. et al. Thyroid Gland 18F-FDG Uptake in Neurofibromatosis Type 1. Eur Thyroid J 2018; 7 (03) 155-161 DOI: 10.1159/000488706.
- 2 Wong CL, Fok CK, Tam VH. Concurrent primary hyperparathyroidism and pheochromocytoma in a Chinese lady with neurofibromatosis type 1. Endocrinol Diabetes Metab Case Rep 2018; 2018: 18-0006 DOI: 10.1530/EDM-18-0006.
- 3 Pop R, Neagoe R, Kolcsar M, Paşcanu I. Endocrine dysfunction in neurofibromatosis type 1–an update. Acta Med Marisiensis 2016; 62 (01) 155-158 DOI: 10.1515/amma-2016-0003.
- 4 Ledbetter DH, Rich DC, O'Connell P, Leppert M, Carey JC. Precise localization of NF1 to 17q11.2 by balanced translocation. Am J Hum Genet 1989; 44 (01) 20-24
- 5 Poyhonen M, Kytölä S, Leisti J. Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland. J Med Genet 2000; 37 (08) 632-636 DOI: 10.1136/jmg.37.8.632.
- 6 Cimino PJ, Gutmann DH. Neurofibromatosis type 1. Handb Clin Neurol 2018; 148: 799-811 DOI: 10.1016/B978-0-444-64076-5.00051-X.
- 7 Bizzarri C, Bottaro G. Endocrine implications of neurofibromatosis 1 in childhood. Horm Res Paediatr 2015; 83 (04) 232-241 DOI: 10.1159/000369802.
- 8 Al-Sharefi A, Perros P, James RA. Phaeochromocytoma/paraganglioma and adverse clinical outcomes in patients with neurofibromatosis-1. Endocr Connect 2018; 7 (10) R254-R259 DOI: 10.1530/EC-18-0208.
- 9 Yao R, Yu T, Xu Y. et al. Clinical presentation and novel pathogenic variants among 68 Chinese neurofibromatosis 1 children. Genes (Basel) 2019; 10 (11) 847 DOI: 10.3390/genes10110847.
- 10 Güler S, Yeşil G, Önal H. Endocrinological evaluations of a neurofibromatosis type 1 cohort: is it necessary to evaluate autoimmune thyroiditis in neurofibromatosis type 1?. Balkan Med J 2017; 34 (06) 522-526 DOI: 10.4274/balkanmedj.2015.1717.
- 11 Diazzi C, Guidi A, Luberto A, Taliani E, Madeo B, Rochira V, Carani C. Thyroid disease in patients with type-1 neurofibromatosis: an underestimated issue?. Endocr Abstr 2011; 452
- 12 Nabi J. Neurofibromatosis type 1 associated with Hashimoto's thyroiditis: coincidence or possible link. Case Rep Neurol Med 2013; 2013: 910656 DOI: 10.1155/2013/910656.
- 13 Doulias T, Papaziogas B, Rosser JH, Koutelidakis I. Thyroid neurofibroma in a female patient with neurofibromatosis type I: report of a case. BMJ Case Rep 2013; 2013: bcr2012008216
- 14 Monzani A, Prodam F, Rapa A. et al. Endocrine disorders in childhood and adolescence. Natural history of subclinical hypothyroidism in children and adolescents and potential effects of replacement therapy: a review. Eur J Endocrinol 2012; 168 (01) R1-R11
- 15 Hussain F, Iqbal S, Mehmood A, Bazarbashi S, ElHassan T, Chaudhri N. Incidence of thyroid cancer in the Kingdom of Saudi Arabia, 2000-2010. Hematol Oncol Stem Cell Ther 2013; 6 (02) 58-64 DOI: 10.1016/j.hemonc.2013.05.004.
- 16 Kim BK, Choi YS, Gwoo S, Park YH, Yang SI, Kim JH. Neurofibromatosis type 1 associated with papillary thyroid carcinoma incidentally detected by thyroid ultrasonography: a case report. J Med Case Reports 2012; 6 (01) 179 DOI: 10.1186/1752-1947-6-179.
- 17 Virdis R, Sigorini M, Laiolo A. et al. Neurofibromatosis type 1 and precocious puberty. J Pediatr Endocrinol Metab 2000; 13 (Suppl. 01) 841-844 DOI: 10.1515/jpem.2000.13.s1.841.
- 18 Lodish MB, Stratakis CA. Endocrine tumours in neurofibromatosis type 1, tuberous sclerosis and related syndromes. Best Pract Res Clin Endocrinol Metab 2010; 24 (03) 439-449 DOI: 10.1016/j.beem.2010.02.002.
- 19 Gruber LM, Erickson D, Babovic-Vuksanovic D, Thompson GB, Young Jr WF, Bancos I. Pheochromocytoma and paraganglioma in patients with neurofibromatosis type 1. Clin Endocrinol (Oxf) 2017; 86 (01) 141-149 DOI: 10.1111/cen.13163.
- 20 Képénékian L, Mognetti T, Lifante JC. et al. Interest of systematic screening of pheochromocytoma in patients with neurofibromatosis type 1. Eur J Endocrinol 2016; 175 (04) 335-344 DOI: 10.1530/EJE-16-0233.
- 21 Behera KK, Nanaiah A, Gupta A, Rajaratnam S. Neurofibromatosis type 1, pheochromocytoma with primary hyperparathyroidism: a rare association. Indian J Endocrinol Metab 2013; 17 (02) 349-351 DOI: 10.4103/2230-8210.109670.
- 22 Zöller M, Rembeck B, Odén A, Samuelsson M, Angervall L. Malignant and benign tumours in patients with neurofibromatosis type 1 in a defined Swedish population. American Cancer Society 1997; 79: 2125-2131 https://doi.org/10.1002/(SICI)1097-0142(19970601)79:11%3C2125::AID-CNCR9%3E3.0.CO;2-N)
- 23 Altinova AE, Toruner F, Cimen AR. et al. The association of neurofibromatosis, bilateral pheochromocytoma and primary hyperparathyroidism. Exp Clin Endocrinol Diabetes 2007; 115 (07) 468-470 DOI: 10.1055/s-2007-981661.
- 24 Al-Wahhabi B. Parathyroid adenoma and bilateral pheochromocytoma in a patient with neurofibromatosis. Ann Saudi Med 2005; 25 (03) 255-257 DOI: 10.5144/0256-4947.2005.255.
- 25 Favere AM, Tsukumo DM, Matos PS, Santos SL, Lalli CA. Association between atypical parathyroid adenoma and neurofibromatosis. Arch Endocrinol Metab 2015; 59 (05) 460-466 DOI: 10.1530/EDM-18-0006.