Abstract
Background: Thyroid Hormone Receptor Alpha (THRA) gene mutation is a thyroid hormone resistance syndrome characterized by non-responsiveness of target tissues to the active form of TH (T3). Clinical Description: We describe a heterozygous missense variant in exon 8 of THRA gene detected in a 2-month-old female with clinical phenotype of hypothyroidism, low free thyroxine, elevated free triiodothyronine & normal levels of thyroid stimulating hormone. Management & Outcome: Clinical improvement in linear growth, motor development domain, hypotonia & constipation were noted with levothyroxine therapy but insufficiencies in cognitive and fine motor skills may remain. Conclusion: THRA gene mutation should be considered in patients with features of clinical hypothyroidism and elevated free T3, decreased/ normal free thyroxine & normal thyroid-stimulating hormone levels.
Published Version
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