Endocrine Dysfunction in Neurofibromatosis Type 1 – An Update

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.

Prevalence of Associated Endocrine Diseases in Patients with Neurofibromatosis Type 1

“…The concomitant occurrence of endocrine diseases in patients with NF-1 has been explained in many previous studies. 1 2 3 7 However, there is an unknown prevalence in the literature that describes this association. This study aims to identify the prevalence of associated endocrine diseases in all ages and both genders with genetically confirmed NF-1 patients, which was found to be 19.4% with a mean age of 20.28 ± 20.67 years.…”

“…2 Growth hormone deficiency and short stature are common in children with NF-1, but with unknown incidence. 3 Central precocious puberty represents the most common endocrine disorder associated with NF-1 during childhood with a prevalence of 3%, compared with 0.6% in the general population. 7 Primary hyperparathyroidism (PHPT) has been rarely reported as isolated cases and the majority is due to the presence of solitary parathyroid adenoma.…”

“…Neurofibromatosis type 1 (NF-1), was first described by Von Recklinghausen in 1882, 1 2 3 is a common neurocutaneous disorder that increases the risk of developing benign and malignant tumors in patients with NF-1. 1 It is considered to be an autosomal dominant caused by a mutation in the NF1 gene located in 17q11.2 with half of the cases are familial and the other half are sporadic mutations.…”