ISSN : 2146-3123
E-ISSN : 2146-3131

Endocrinological Evaluations of a Neurofibromatosis Type 1 Cohort: is it Necessary to Evaluate Autoimmune Thyroiditis in Neurofibromatosis Type 1?
Serhat Güler 1, Gözde Yeşil 2, Hasan Önal 3
1Department of Pediatric Neurology, Edirne Sultan 1. Murat State Hospital, Edirne, Turkey
2Department of Medical Genetics, Bezmialem Vakıf University School of Medicine, İstanbul, Turkey
3Department of Pediatric Endocrinology and Metabolic Diseases, Kanuni Sultan Süleyman Training and Research Hospital, İstanbul, Turkey
DOI : 10.4274/balkanmedj.2015.1717


Background:Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder in which coexistence with autoimmune thyroiditis and thyroid gland tumours has been reported previously.
Aims:We aimed to determine the thyroid function and autoimmune thyroid diseases in neurofibromatosis type 1 patients in order to identify the possible association between neurofibromatosis type 1 and thyroid diseases.
Study Design: Case-control study.
Methods:The study includes 78 consecutive patients diagnosed with neurofibromatosis type 1 between June 2010 and June 2014 and 50 healthy controls.Baseline demographic data were generated from patient examination record form including the age, sex, height, and weight parameters as well as levels of free triiodothyronine, free thyroxine, and thyroid-stimulating hormone, anti-thyroid peroxidase and anti-thyroglobulin levels.
Results:Mean age, sex, and body mass index were similar in both of groups (p>0.05). The mean levels of free triiodothyronine, free thyroxine, and thyroid-stimulating hormone were not statistically different between neurofibromatosis type 1 and control groups. Similarly, no statistically significant difference was observed between neurofibromatosis type 1 and control group for anti-thyroid peroxidase and anti-thyroglobulin positivity (2.5% vs. 0%, p>0.05, respectively).
Conclusion:The screening for autoimmune thyroid disease and thyroid function seems to be unnecessary in patients with neurofibromatosis type 1.

Keywords : Neurofibromatosis type 1, thyroid hormone, autoimmune thyroiditis, anti-thyroid peroxidase, anti-thyroglobulin