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open access

Vol 68, No 6 (2017)
Review paper
Submitted: 2017-04-13
Accepted: 2017-06-19
Published online: 2017-11-30
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Thyroid ectopy — diagnostic and therapeutic challenges before and in the era of TSH neonatal screening

Ewelina Szczepanek-Parulska, Aleksandra Hernik, Marek Ruchała
DOI: 10.5603/EP.a2017.0061
·
Pubmed: 29238947
·
Endokrynol Pol 2017;68(6):708-721.

open access

Vol 68, No 6 (2017)
Reviews — Postgraduate Education
Submitted: 2017-04-13
Accepted: 2017-06-19
Published online: 2017-11-30

Abstract

Despite TSH screening in newborns is currently conducted in most developed countries, patients with thyroid ectopy born before the procedure was introduced or those in whom the screening failed to establish diagnosis, might still appear. In the paper we revise the current state of knowledge regarding the clinical presentation, diagnosis and treatment of patients with thyroid ectopy. As an example, we report diagnostic and therapeutic difficulties in our three patients with thyroid ectopy remaining undiagnosed and untreated during early childhood. Introduction of neonatal screening for congenital hypothyroidism does not guarantee that all patients with thyroid ectopy will be correctly diagnosed and properly treated due to the possibility of falsely negative result of TSH screening or lack of compliance from parents. Visualization of an ectopic thyroid on ultrasound examination may be challenging for unexperienced sonographists; muscles in the thyroid bed may be misdiagnosed as heterogeneous and hypoechogenic thyroid gland with features suggesting autoimmune thyroid disease. Thyroid scintiscan is crucial for confirmation of the diagnosis of thyroid ectopy. In conclusion, hypothyroidism due to thyroid developmental anomaly should be taken into consideration in case of hypothyroidism and normal thyroid autoantibodies in a patient at any age.

Abstract

Despite TSH screening in newborns is currently conducted in most developed countries, patients with thyroid ectopy born before the procedure was introduced or those in whom the screening failed to establish diagnosis, might still appear. In the paper we revise the current state of knowledge regarding the clinical presentation, diagnosis and treatment of patients with thyroid ectopy. As an example, we report diagnostic and therapeutic difficulties in our three patients with thyroid ectopy remaining undiagnosed and untreated during early childhood. Introduction of neonatal screening for congenital hypothyroidism does not guarantee that all patients with thyroid ectopy will be correctly diagnosed and properly treated due to the possibility of falsely negative result of TSH screening or lack of compliance from parents. Visualization of an ectopic thyroid on ultrasound examination may be challenging for unexperienced sonographists; muscles in the thyroid bed may be misdiagnosed as heterogeneous and hypoechogenic thyroid gland with features suggesting autoimmune thyroid disease. Thyroid scintiscan is crucial for confirmation of the diagnosis of thyroid ectopy. In conclusion, hypothyroidism due to thyroid developmental anomaly should be taken into consideration in case of hypothyroidism and normal thyroid autoantibodies in a patient at any age.

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Keywords

thyroid dysgenesis, thyroid ectopy, congenital hypothyroidism screening, thyroid ultrasonography, scintigraphy

About this article
Title

Thyroid ectopy — diagnostic and therapeutic challenges before and in the era of TSH neonatal screening

Journal

Endokrynologia Polska

Issue

Vol 68, No 6 (2017)

Article type

Review paper

Pages

708-721

Published online

2017-11-30

Page views

3022

Article views/downloads

8416

DOI

10.5603/EP.a2017.0061

Pubmed

29238947

Bibliographic record

Endokrynol Pol 2017;68(6):708-721.

Keywords

thyroid dysgenesis
thyroid ectopy
congenital hypothyroidism screening
thyroid ultrasonography
scintigraphy

Authors

Ewelina Szczepanek-Parulska
Aleksandra Hernik
Marek Ruchała

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