ABSTRACT
SUMMARY Resistance to thyroid hormone (RTH) coexisting with ectopic thyroid is rare. Here we report a case of RTH with ectopic thyroid. A ten-year-old girl had been misdiagnosed as congenital hypothyroidism and treated with levothyroxine since she was born. Ten-year follow-up showed that the elevated thyrotropin was never suppressed by levothyroxine and no signs indicating hyperthyroidism or hypothyroidism despite elevated FT3 and FT4 levels. Therefore the girl developed no defects in physical and cognitive development. Pituitary adenoma was excluded by magnetic resonance imaging. Ultrasonography did not find the thyroid gland in the normal place, while the thyroid scan found a large lingual thyroid gland. The octreotide inhibition test showed a reduction in thyrotropin by 41.98%. No mutation was detected in the thyroid hormone receptor (THR) β, THRα, thyrotropin receptor (TSHR), and GNAS1 genes. To our knowledge, it is an interesting RTH case coexisting with lingual thyroid.
Subject(s)
Humans , Female , Child , Receptors, Thyroid Hormone/genetics , Thyroid Hormone Resistance Syndrome/complications , Thyroid Dysgenesis/complications , Thyroxine/therapeutic use , Time Factors , Tongue Diseases/diagnostic imaging , DNA/isolation & purification , Thyrotropin/analysis , DNA Mutational Analysis , Follow-Up Studies , Thyroid Hormone Resistance Syndrome/genetics , Congenital Hypothyroidism/diagnosis , Diagnostic Errors , Thyroid Dysgenesis/genetics , Thyroid Dysgenesis/diagnostic imagingABSTRACT
Resistance to thyroid hormone (RTH) coexisting with ectopic thyroid is rare. Here we report a case of RTH with ectopic thyroid. A ten-year-old girl had been misdiagnosed as congenital hypothyroidism and treated with levothyroxine since she was born. Ten-year follow-up showed that the elevated thyrotropin was never suppressed by levothyroxine and no signs indicating hyperthyroidism or hypothyroidism despite elevated FT3 and FT4 levels. Therefore the girl developed no defects in physical and cognitive development. Pituitary adenoma was excluded by magnetic resonance imaging. Ultrasonography did not find the thyroid gland in the normal place, while the thyroid scan found a large lingual thyroid gland. The octreotide inhibition test showed a reduction in thyrotropin by 41.98%. No mutation was detected in the thyroid hormone receptor (THR) ß, THRα, thyrotropin receptor (TSHR), and GNAS1 genes. To our knowledge, it is an interesting RTH case coexisting with lingual thyroid.
Subject(s)
Receptors, Thyroid Hormone/genetics , Thyroid Dysgenesis/complications , Thyroid Hormone Resistance Syndrome/complications , Child , Congenital Hypothyroidism/diagnosis , DNA/isolation & purification , DNA Mutational Analysis , Diagnostic Errors , Female , Follow-Up Studies , Humans , Thyroid Dysgenesis/diagnostic imaging , Thyroid Dysgenesis/genetics , Thyroid Hormone Resistance Syndrome/genetics , Thyrotropin/analysis , Thyroxine/therapeutic use , Time Factors , Tongue Diseases/diagnostic imagingABSTRACT
BACKGROUND: The formation of a Hairy Polyp on the dorsum of the tongue is a rare condition that may hinder vital functions such as swallowing and breathing due to mechanical obstruction. The authors present the situation on a child with an approach of significant academic value. METHODS: Imaging diagnostics with the application of a topical oral radiocontrastant was used to determine the extent of the tumor. Performed treatment was complete excision and diagnostics was confirmed with anatomopathological analysis. RESULTS: The patient was controlled for five months and, showing no signs of relapse, was considered free from the lesion. CONCLUSION: Accurate diagnostics of such a lesion must be performed in depth so that proper surgical treatment may be performed. The imaging method proposed has permitted the visualization of the tumoral insertion and volume, as well as the comprehension of its threatening dynamics.