<abstract xmlns="http://www.w3.org/1999/xhtml">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.</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.

Endocrine Dysfunction in Neurofibromatosis Type 1 – An Update

Research Methodology Department, University of Medicine and Pharmacy Tirgu Mures, Romania

Endocrinology Outpatient Clinic, Emergency Mureş County Hospital, Tirgu-Mures, Romania

Surgery Department, University of Medicine and Pharmacy Tirgu Mures, Tirgu-Mures, Romania

Pharmacology and Clinical Pharmacy Department, University of Medicine and Pharmacy Tirgu Mures, Tirgu-Mures, Romania

Endocrinology Department, University of Medicine and Pharmacy Tirgu Mures, Romania

Acta Marisiensis - Seria Medica

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

{"article-title":"Endocrine Dysfunction in Neurofibromatosis Type 1 \u2013 An Update"}

Background: Neurofibromatosis type 1 is an autosomal dominant disorder associated with multiple neoplasms particularly those of ectodermal origin. Various...

Endocrine Dysfunction in Neurofibromatosis Type 1 – An Update

Publié en ligne: 09 févr. 2016

Pages: 155 - 158

Reçu: 14 sept. 2015

Accepté: 08 janv. 2016

DOI: https://doi.org/10.1515/amma-2016-0003

Mots clés
follicular thyroid lesion, hyperparathyroidism, neurofibromatosis

© by Melinda Kolcsar

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Endocrine Dysfunction in Neurofibromatosis Type 1 – An Update

Publié en ligne: 09 févr. 2016

Pages: 155 - 158

Reçu: 14 sept. 2015

Accepté: 08 janv. 2016

DOI: https://doi.org/10.1515/amma-2016-0003

Mots clésfollicular thyroid lesion, hyperparathyroidism, neurofibromatosis

© by Melinda Kolcsar

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Mots clés
follicular thyroid lesion, hyperparathyroidism, neurofibromatosis