Endocrine Dysfunction in Neurofibromatosis Type 1 – An Update

Abstract

Abstract Background: Neurofibromatosis type 1 is an autosomal dominant disorder associated with multiple neoplasms particularly those of ectodermal origin. Various endocrine pathologies are often present, among them, hyperparathyroidism and follicular thyroid lesion are very rare described and their coincidence in the same patient has not been described in the literature reviewed. Subject: A 59-years-old woman with clinical manifestation of neurofibromatosis type 1 developed dysphagia, dysphonia, choking sensation. Physical and imagistic examination revealed a multinodular goiter with microfollicular lesion on fine needle aspiration biopsy (FNAB), elevated parathormone levels and severe osteoporosis. The surgically removed thyroid contained a nodule with follicular architecture of uncertain malignant potential; the parathyroid tissue appeared normal. Discussion and conclusion: This case serves as a reminder to look for non-neurogenic tumors in patients with neurofibromatosis. Clinicians must be aware of the diverse clinical features of this genetic disorder.