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The Unusual Case of a Rapidly Enlarging Thyroid Gland in a Patient With Pendred Syndrome

Pendred syndrome is a genetic condition that is characterized by sensorineural hearing loss, abnormalities of the vestibular system, and goiter. In patients with Pendred syndrome, goiter tends to develop in late childhood or early adulthood and the literature details a progressive enlargement of goi...

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Detalles Bibliográficos
Autores principales: Maler, Neal, Levin, Ellis R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8089834/
http://dx.doi.org/10.1210/jendso/bvab048.1962
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author Maler, Neal
Levin, Ellis R
author_facet Maler, Neal
Levin, Ellis R
author_sort Maler, Neal
collection PubMed
description Pendred syndrome is a genetic condition that is characterized by sensorineural hearing loss, abnormalities of the vestibular system, and goiter. In patients with Pendred syndrome, goiter tends to develop in late childhood or early adulthood and the literature details a progressive enlargement of goiter in these individuals. Here we report the case of a 26 year old female with Pendred syndrome and congenital deafness who presented with a rapidly enlarging thyroid gland over 1 week with associated symptoms of dysphagia, dyspnea, insomnia, and diaphoresis. Thyroid function tests at the time showed no abnormalities. Diagnostic thyroid ultrasound was performed and showed enlarged, multinodular goiter and bilateral thyroid nodules measuring 1.2 cm and 1.1 cm in the right and left thyroid lobe, respectively, with TI-RADS 2 classification. The patient had a thyroid core biopsy performed showing benign appearing thyroid follicles without any evidence of malignancy. After approximately one month following the initial presentation, the patient reported resolution of her goiter and associated symptoms without intervention. To our knowledge, this is the first case in the literature detailing a rapidly enlarging goiter in a patient with Pendred Syndrome, with subsequent resolution of signs and symptoms.
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spelling pubmed-80898342021-05-06 The Unusual Case of a Rapidly Enlarging Thyroid Gland in a Patient With Pendred Syndrome Maler, Neal Levin, Ellis R J Endocr Soc Thyroid Pendred syndrome is a genetic condition that is characterized by sensorineural hearing loss, abnormalities of the vestibular system, and goiter. In patients with Pendred syndrome, goiter tends to develop in late childhood or early adulthood and the literature details a progressive enlargement of goiter in these individuals. Here we report the case of a 26 year old female with Pendred syndrome and congenital deafness who presented with a rapidly enlarging thyroid gland over 1 week with associated symptoms of dysphagia, dyspnea, insomnia, and diaphoresis. Thyroid function tests at the time showed no abnormalities. Diagnostic thyroid ultrasound was performed and showed enlarged, multinodular goiter and bilateral thyroid nodules measuring 1.2 cm and 1.1 cm in the right and left thyroid lobe, respectively, with TI-RADS 2 classification. The patient had a thyroid core biopsy performed showing benign appearing thyroid follicles without any evidence of malignancy. After approximately one month following the initial presentation, the patient reported resolution of her goiter and associated symptoms without intervention. To our knowledge, this is the first case in the literature detailing a rapidly enlarging goiter in a patient with Pendred Syndrome, with subsequent resolution of signs and symptoms. Oxford University Press 2021-05-03 /pmc/articles/PMC8089834/ http://dx.doi.org/10.1210/jendso/bvab048.1962 Text en © The Author(s) 2021. Published by Oxford University Press on behalf of the Endocrine Society. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs licence (http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ), which permits non-commercial reproduction and distribution of the work, in any medium, provided the original work is not altered or transformed in any way, and that the work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Thyroid
Maler, Neal
Levin, Ellis R
The Unusual Case of a Rapidly Enlarging Thyroid Gland in a Patient With Pendred Syndrome
title The Unusual Case of a Rapidly Enlarging Thyroid Gland in a Patient With Pendred Syndrome
title_full The Unusual Case of a Rapidly Enlarging Thyroid Gland in a Patient With Pendred Syndrome
title_fullStr The Unusual Case of a Rapidly Enlarging Thyroid Gland in a Patient With Pendred Syndrome
title_full_unstemmed The Unusual Case of a Rapidly Enlarging Thyroid Gland in a Patient With Pendred Syndrome
title_short The Unusual Case of a Rapidly Enlarging Thyroid Gland in a Patient With Pendred Syndrome
title_sort unusual case of a rapidly enlarging thyroid gland in a patient with pendred syndrome
topic Thyroid
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8089834/
http://dx.doi.org/10.1210/jendso/bvab048.1962
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