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Case report: thyroid hormone resistance and its therapeutic challenges
1Department of Pediatrics, Division of Pediatric Endocrinology, The Children's Hospital, Denver, Colorado, USA. Toni.kim@uchsc.edu
Abstract:
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.
Insights
Thyroid hormone resistance, caused by genetic mutations, presents challenges in treatment. This case study optimizes growth and development in a young patient with this rare condition.
Area of Science:
- Endocrinology
- Genetics
- Molecular Biology
Background:
- Thyroid hormone resistance (THR) arises from genetic mutations in the thyroid hormone receptor, impairing hormone binding.
- This leads to reduced receptor affinity and altered circulating free thyroid hormone levels.
- THR is linked to diverse phenotypes, including developmental and behavioral issues, complicating management.
Observation:
- A pediatric patient presented with early-onset thyroid hormone resistance.
- Common symptoms observed included hyperactivity, emotional lability, below-average IQ, and short stature.
- The patient's presentation offered a unique opportunity for early intervention to optimize growth and development.
Findings:
- The study details the clinical presentation of a child with early-onset thyroid hormone resistance.
- It highlights the challenges in managing this condition, particularly in pediatric populations.
- The report reviews existing literature on treating thyroid hormone resistance in children.
Implications:
- Early diagnosis and intervention are crucial for managing thyroid hormone resistance in children.
- Optimizing treatment strategies can improve overall growth and neurodevelopmental outcomes.
- Further research is needed to establish standardized treatment protocols for pediatric THR.
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