Background: Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by reduced sensitivity of target tissues to thyroid hormone.
Objective and hypotheses: We describe the clinical, biochemical data and mutation analysis of two patients and their families with (RTH).
Method: We conducted clinical studies and genetic analysis of these two patients and their families.
Results: First patient referred to pediatric endocrinology department for hyperthroidism associated with supraventricular tachycardia and thyroid hormone levels consistent with RTH. We found heterozygous c.962A>G mutation in THRB gene. The mother and siblings of this patient had no mutation in this gene. We could not evaluate this patients father. Second patient admitted for hyperactivity and referred for the abnormalities in thyroid function tests. We found heterozygous c.1378G>A mutation in THRB gene in this patient and his father and brother.
Conclusion: Goiter, hyperactivity and tachycardia are the most common clinical features in the patients with RTH syndrome. Diagnosis of RTH depends on the characteristic elevations in thyroid hormone and the exclusion of other causes of hyperthyroxinemia.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology