Congenital hypothyroidism result in permanent changes of skeletal system and intellectual development.
We treated a 37-year old man with congenital hypothyroidism due to thyroid hypoplasia. He was presented with mental retardation, dwarfism, skeletal abnormalities including hip dislocation and megacolon. He has never been diagnosed or treated.
Thyroid function test revealed decreased serum T3 and T4, increased TSH and decreased I-131 uptake. Technetium-99m-pertechnate thyroid scan diclosed no functioning thyroid tissue, but normal serum thyroglobulin suggesting thyroid hypoplasia rather than athyrosis. X-ray films of skull, hands, pelvis and knee revealed still present epiphysis, unerupted teeth, dislocated hip. A CT scan of abdomen revealed enlarged colon and rectum.
Neonatal screening program of congenital hypothyroidism will be needed in Korea.
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