Case report: thyroid hormone resistance and its therapeutic challenges.
Thyroid hormone resistance occurs when a genetic mutation in the thyroid hormone receptor leads to reduced hormone binding affinity; the concentration of free thyroid hormone in the circulation is inversely correlated with the hormone binding affinity of the mutant receptor. Thyroid hormone resistance mutations are associated with a wide variety of phenotypes and subsequent treatment challenges. Among the more common symptoms are hyperactivity, emotional lability, a below average intelligence quotient, and short stature. We report here a patient who presented with thyroid hormone resistance at an early age, providing an opportunity to optimize her overall growth and development. We review the limited information currently available in the literature addressing the treatment of thyroid hormone resistance in children and describe the approach used to determine the treatment plan in this young child.
Kim
Toni J
TJ
Department of Pediatrics, Division of Pediatric Endocrinology, The Children's Hospital, Denver, Colorado, USA. Toni.kim@uchsc.edu
Travers
Sharon
S
D013956:Antithyroid Agents / Q000627:therapeutic use; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D006980:Hyperthyroidism / Q000175:diagnosis* / Q000188:drug therapy*; D007223:Infant; D008713:Methimazole / Q000627:therapeutic use; D009154:Mutation; D011988:Receptors, Thyroid Hormone / Q000235:genetics; D013960:Thyroid Function Tests; D018382:Thyroid Hormone Resistance Syndrome / Q000175:diagnosis* / Q000188:drug therapy* / Q000235:genetics; D013974:Thyroxine / Q000627:therapeutic use*
D013956:Antithyroid Agents; D011988:Receptors, Thyroid Hormone; D008713:Methimazole; D013974:Thyroxine