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Updated: May 25, 2026

An Ex vivo Culture System to Study Thyroid Development
Published on: June 6, 2014
Growth and development in a child with resistance to thyroid hormone and ectopic thyroid gland
Natasha Heather1, Kate Hall, Katherine Neas
1Department of Paediatrics, Capital and Coast District Health Board, Wellington, New Zealand.
Insights
This study presents a rare case of thyroid hormone resistance combined with thyroid gland ectopy in a child with developmental delay. Persistent high thyrotropin levels suggest resistance to thyroid hormone may be an overlooked diagnosis.
Area of Science:
- Endocrinology
- Genetics
- Pediatrics
Background:
- Resistance to thyroid hormone (RTH) is a rare endocrine disorder.
- Thyroid dysgenesis, including thyroid gland ectopy, is a known cause of congenital hypothyroidism.
- Association between RTH and thyroid dysgenesis is uncommon.
Observation:
- A 2-year-old patient presented with developmental delay, dysmorphic features, and elevated thyroxine and thyrotropin levels.
- The patient had both thyroid gland ectopy and resistance to thyroid hormone.
- This dual condition implies a reduced capacity for both thyroid hormone production and response.
Findings:
- Thyroxine therapy was initiated to manage the condition.
- The study documented the patient's response to thyroxine, focusing on growth and developmental progress.
- Persistent elevation of thyrotropin was observed despite treatment.
Implications:
- Persistent thyrotropin elevation is common in congenital hypothyroidism treatment.
- Resistance to thyroid hormone should be considered in cases with persistently elevated thyrotropin.
- This case highlights the importance of considering combined RTH and thyroid dysgenesis in pediatric patients.
Abstract:
Resistance to thyroid hormone is an uncommon problem, which has rarely been associated with thyroid dysgenesis. We report a case with both thyroid gland ectopy and resistance to thyroid hormone and, thus, a reduced capacity to produce and respond to thyroid hormone. The patient presented at 2 years of age with developmental delay, dysmorphic features, and elevation in both thyroxine and thyrotropin. We document her response to therapy with thyroxine, with particular regard to her growth and development. Persistent elevation of thyrotropin is commonly recognized during treatment of congenital hypothyroidism. Resistance to thyroid hormone may be an important additional diagnosis to consider in cases where thyrotropin remains persistently elevated.
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