• Korean Journal of Head & Neck Oncology
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• v.10 no.2
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• pp.206-211
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• 1994

Congenital thyroid dysgenesis including agenesis, hypoplasia and ectopia is the predominant cause of permanent hypothyroidism. Of these, two thirds are due to an ectopic thyroid and about one third to complete thyroid agensis. From Jan. 1981 to Dec. 1992, authors experienced the 9 cases of congenital thyroid dysgenesis. Aberrent thyroid was 4 cases (44.4%), thyroid hemiagenesis with aberrent thyroid was 3 cases(33.3%) and thyroid hemiagenesis was 2 cases(22.2%). The most predominant site of aberrent thyroid is the base of tongue(85.7%). 7 patients(77.8%) revealed euthyroidism and among them, 4 patients showed elevated TSH level. Hypothyroidism was 2 patients (22.2%). 7 cases responded to thyroid suppressive therapy. 2 cases of lingual thyroid which did not responed to thyroid suppressive therapy underwent surgery and they have placed on thyroid suppressive therapy postoperatively.

• Journal of Genetic Medicine
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• v.7 no.1
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• pp.9-15
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• 2010

Congenital hypothyroidism (CH) is detected at a rate of 1 in 3,000 to 4,000 live births, making it the most common congenital endocrine disorder worldwide. CH is most commonly caused by defects in thyroid development leading to thyroid dysgenesis or dyshormonogenesis. Congenital hypothyroidism is usually sporadic, but up to 2% of cases of thyroid dysgenesis are familial, and CH caused by organification defects is often inherited in a recessive manner. The candidate genes associated with this genetically heterogeneous disorder fall into two main groups: those causing thyroid gland dysgenesis and those causing dyshormonogenesis. Genes associated with thyroid gland dysgenesis include the TSHR gene in nonsyndromic CH, and Gsa and the thyroid transcription factor (TTF-1, TTF-2, and Pax-8) genes, which are associated with different complex syndromes that include CH. Among genes associated with dyshormonogenesis, the TPO and TG genes were initially described, and more recently PDS, NIS, and THOX2 gene defects. There is some evidence for a third group of CH conditions associated with iodothyronine transporter defects that are, in turn, associated with severe neurological sequelae.

• Journal of Chest Surgery
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• v.46 no.3
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• pp.237-239
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• 2013

An ectopic thyroid is caused by abnormalities in migration of the thyroid during development and rarely occurs in the thoracic cavity or the abdominal cavity. We report the case of a 64-year-old female who had abnormal findings from a thyroid hormone test during follow-up after thyroid cancer surgery. Based on the radioisotope diagnostic test, an ectopic thyroid inside the thoracic cavity was suspected. Through surgical treatment, the patient was diagnosed with ectopic intrapulmonary thyroid. Ectopic intrapulmonary thyroid is reported to be very rare and the case is described along with a literature review.