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      Dual ectopic thyroid associated with thyroid hemiagenesis

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          Summary

          We report a case of a 15-year-old girl with a midline neck mass that was first noted 2 or 3 years previously. She had been treated with levothyroxine (L-T4) for congenital hypothyroidism until 11 years of age. Ultrasonography revealed an atrophic right thyroid (1.0 × 1.6 × 2.6 cm in size) and a mass (2.3 × 1.0 × 3.5 cm in size) in the upper part of the neck. No left lobe of the thyroid was detected. On further evaluation, Tc-99m pertechnetate thyroid scintigraphy and CT showed ectopic thyroid tissue in the lingual region and infrahyoid region. Thus, she was diagnosed as having dual ectopic thyroid and thyroid hemiagenesis. The atrophic right thyroid was thought be non-functional. Treatment with L-T4 was started to reduce the size of the dual ectopic thyroid tissue. This may be the first reported case of dual ectopic thyroid associated with hemiagenesis detected only by ultrasonography.

          Learning points:
          • Ultrasonography can confirm the presence or absence of orthotopic thyroid tissue in patients with ectopic thyroid.

          • The cause of congenital hypothyroidism should be examined.

          • Clinical manifestation of ectopic thyroid may appear when the treatment with L-T4 is discontinued.

          • Annual follow-up is needed in all children when their thyroid hormone replacement is stopped.

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          Most cited references10

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          Morphological, diagnostic and surgical features of ectopic thyroid gland: a review of literature.

          Ectopic thyroid tissue remains a rare developmental abnormality involving defective or aberrant embryogenesis of the thyroid gland during its passage from the floor of the primitive foregut to its usual final position in pre-tracheal region of the neck. Its specific prevalence accounts about 1 case per 100.000-300.000 persons and one in 4.000-8.000 patients with thyroid disease show this condition. The cause of this defect is not fully known. Despite genetic factors have been associated with thyroid gland morphogenesis and differentiation, just recently some mutation has been associated with human thyroid ectopy. Lingual region in the most common site of thyroid ectopy but ectopic thyroid tissue were found in other head and neck locations. Nevertheless, aberrant ectopic thyroid tissue has been found in other places distant from the neck region. Ectopic tissue is affected by different pathological changes that occur in the normal eutopic thyroid. Patients may present insidiously or as an emergency. Diagnostic management of thyroid ectopy is performed by radionuclide thyroid imaging, ultrasonography, CT scan, MRI, biopsy and thyroid function tests. Asymptomatic euthyroid patients with ectopic thyroid do not usually require therapy but are kept under observation. For those with symptoms, treatment depends on size of the gland, nature of symptoms, thyroid function status and histological findings. Surgical excision is often required as treatment for this condition.
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            Pitfalls in the diagnosis of thyroid dysgenesis by thyroid ultrasonography and scintigraphy.

            We aimed to investigate the reliability of thyroid ultrasonography (US) and scintigraphy in determining the type of thyroid dysgenesis (TD). The study included 82 children (8.0±5.6 years) with a diagnosis of TD by thyroid scintigraphy with (99m)Tc and/or US. The patients were re-evaluated 6.0±5.1 years after the diagnosis. Thyroid US was performed in all cases, regardless of the previous US imaging. Scintigraphy images performed at the time of diagnoses (n=60) were re-evaluated during the study. Those who had no scintigraphy at the time of diagnosis (n=22) or had discordant findings with US (n=6) underwent a new scintigraphy. Scintigraphies revealed no uptake in 37, ectopia in 35, and hypoplasia in 10 cases. The sensitivity vs specificity for US to detect athyreosis, ectopia, and hypoplasia at the time of initial diagnoses was 90.5 vs 47.8, 10 vs 100, and 100 vs 80.4% respectively. The sensitivity vs specificity for scintigraphy at the time of initial diagnoses was 96.2 vs 100, 92 vs 97.1, and 100 vs 96%, respectively, for each diagnosis. Re-scintigraphy at the time of the study led to a change in the initial diagnosis of 3/6 cases. Repeated US showed disappearance of previously reported hypoplastic thyroid tissues in eight patients. US alone could not differentiate ectopia and athyreosis, whereas scintigraphy alone is also prone to mistakes in newborns and young ages. Dual thyroid imaging is important for precise structural definition of TD.
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              Prevalence of thyroid hemiagenesis in an asymptomatic schoolchildren population.

              Thyroid hemiagenesis is a rare congenital anomaly in which one lobe of thyroid gland fails to develop. Because variations of the prevalence of this anomaly have been reported, the aim of this study was to evaluate the prevalence rate of thyroid hemiagenesis in an apparently normal population from Northern Poland. Ultrasound examination of the thyroid gland was performed in 4004 unselected 7-15-year-old school-children from the seaside zone of Northern Poland. Two cases of thyroid hemiagenesis were found, both being absence of the left lobe in two girls. Thyroid volumes, adjusted to body surface area, were within normal range; serum thyrotropin, free thyroxine, and free triiodothyronine were within normal limits. Physical examination, abdominal ultrasound, and echocardiography did not show extrathyroidal malformations. Thyroid ultrasound was normal in the girls, parents, and siblings. The study showed a 0.05% prevalence of thyroid hemiagenesis in asymptomatic schoolchildren population from iodine-sufficient area of Northern Poland.

                Author and article information

                Journal
                Endocrinol Diabetes Metab Case Rep
                Endocrinol Diabetes Metab Case Rep
                EDM
                Endocrinology, Diabetes & Metabolism Case Reports
                Bioscientifica Ltd (Bristol )
                2052-0573
                27 April 2018
                2018
                : 2018
                : 18-0026
                Affiliations
                [1]Thyroid and Diabetic Division , Department of Internal Medicine, Japanese Red Cross Gifu Hospital, Gifu, Japan
                Author notes
                Correspondence should be addressed to S Nakamura Email s-nakamura@ 123456gifu-med.jrc.or.jp
                Article
                EDM180026
                10.1530/EDM-18-0026
                5931231
                7390d38e-f995-4d2b-be24-342196e990c9
                © 2018 The authors

                This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License.

                History
                : 01 April 2018
                : 12 April 2018
                Categories
                Unique/Unexpected Symptoms or Presentations of a Disease

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