PENDRED syndrome with ectopic thyroid: About a delayed diagnosis
Department of Endocrinology, Diabetes, Metabolic diseases and Nutrition Mohammed VI university hospital of Marrakesh
Faculty of medicine and pharmacy of Marrakech, Cadi Ayyad University, Marrakesh, Morocco.
Case Study
World Journal of Advanced Research and Reviews, 2023, 17(01), 904–907
Publication history:
Received on 04 December 2022; revised on 19 January 2023; accepted on 21 January 2023
Abstract:
We describe a case of a delayed diagnosis of Pendred syndrome. The patient had a history of total thyroidectomy 13 years ago .And presented when aged 30 with a cervical abscess of ectopic thyroid. The patient had a hearing loss from the early childhood and she had a 27 year old sister who present the same history of deafness and goiter.
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by mutations in the PDS/SLC26A4 gene encoding for pendrin. Hypothyroidism in Pendred syndrome can be--although rarely--present from birth and therefore diagnosed by neonatal screening. We highlight to the general physician the classical features of this syndrome that would aid early diagnosis.
Keywords:
Goiter; Sensorineural deafness; Thyroid hormone; Pendred syndrome
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Copyright © 2023 Author(s) retain the copyright of this article. This article is published under the terms of the Creative Commons Attribution Liscense 4.0