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Original ArticleOpen Access
Etiologic Study of Primary Congenital Hypothyroidism
Seeherunvong T 
,
Churesigaew S
,
Churesigaew S The underlying causes of 35 children with primary congenital hypothyroidism at the
Children's Hospital were studied. There were 21 girls and 14 boys. Serum T4 and TSH level, 24
hours 131 I uptake, and technetium-99m thyroid scintigraphy were performed after discontinuation
of synthetic thyroid hormone for 4-6 weeks. Athyrosis was the most common cause and
accounted for forty-three per cent of the patients. Twenty per cent of the patients had thyroid
hypoplasia. Ectopic thyroid was found in thirty-three per cent of the patients. Only a patient
whose diagnosis was organification defect had slightly enlarged thyroid gland, high retention of
131I and positive perchlorate discharge test. Onset of symptoms before 9 months of age may be
helpful for distinguishing between lingual thyroid and the others. Serum T 4 level less than 2 µg/dL
was observed to be more common in athyrosis and lingual thyroid groups than thyroid hypoplasia
group.
Children's Hospital were studied. There were 21 girls and 14 boys. Serum T4 and TSH level, 24
hours 131 I uptake, and technetium-99m thyroid scintigraphy were performed after discontinuation
of synthetic thyroid hormone for 4-6 weeks. Athyrosis was the most common cause and
accounted for forty-three per cent of the patients. Twenty per cent of the patients had thyroid
hypoplasia. Ectopic thyroid was found in thirty-three per cent of the patients. Only a patient
whose diagnosis was organification defect had slightly enlarged thyroid gland, high retention of
131I and positive perchlorate discharge test. Onset of symptoms before 9 months of age may be
helpful for distinguishing between lingual thyroid and the others. Serum T 4 level less than 2 µg/dL
was observed to be more common in athyrosis and lingual thyroid groups than thyroid hypoplasia
group.
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