Mohammed Ali Al Balwi

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.