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The differing outcomes of hyperthyrotropinaemia
Declan Cody1, Yadlapalli Kumar, Sze May Ng
1Royal Liverpool Children's NHS Trust, UK. declan.cody@btopendworld.com
Insights
Persistent hyperthyrotropinaemia in children, a condition with normal thyroxine (T4) and raised thyroid-stimulating hormone (TSH), requires ongoing monitoring. Most children exhibit normal development, but continued thyroid function tests are recommended until TSH levels normalize.
Area of Science:
- Pediatric Endocrinology
- Neonatal Screening
- Thyroid Function Tests
Background:
- Hyperthyrotropinaemia (elevated TSH with normal T4) is detected via neonatal screening.
- The long-term outcomes for children with persistent hyperthyrotropinaemia remain unclear.
- This condition necessitates careful evaluation of its developmental impact.
Purpose of the Study:
- To assess the developmental outcomes of children diagnosed with persistent hyperthyrotropinaemia.
- To understand the long-term trajectory of thyroid function in affected children.
- To inform clinical management guidelines for this condition.
Main Methods:
- Retrospective analysis of pediatric patients diagnosed with hyperthyrotropinaemia over 20 years.
- Inclusion criteria: diagnosis of hyperthyrotropinaemia lasting over 3 months.
- Data collection focused on thyroid function test trends, growth, and developmental milestones.
Main Results:
- Eight children were identified with hyperthyrotropinaemia exceeding 3 months.
- Four cases presented with a transient form (3-18 months).
- Three children maintained persistently elevated TSH at ages 5, 9, and 17; one developed hypothyroidism requiring thyroxine replacement.
- All participants demonstrated normal growth and development.
Conclusions:
- Children with persistent hyperthyrotropinaemia generally show normal growth and development.
- Continuous monitoring of thyroid function is crucial until thyroid-stimulating hormone (TSH) levels normalize.
- Early detection through neonatal screening allows for timely intervention and management.
Abstract:
Hyperthyrotropinaemia, in which normal levels of T4 occur in association with raised TSH, is picked up on neonatal screening. The outcome of children with persistent hyperthyrotropinaemia is uncertain. The study objective was to evaluate the outcome of children with the persistent form of hyperthyrotropinaemia. We carried out a retrospective analysis on children who attended one institution over the last 20 years with this diagnosis. Eight children were diagnosed with hyperthyrotropinaemia lasting more than 3 months in total. Four had a transient form lasting between 3 and 18 months in total. Three continue to have persistently raised TSH at 5, 9 and 17 years, respectively. One patient became biochemically hypothyroid at 1 year of age requiring treatment with replacement thyroxine. All of our group had normal growth and development. We recommend that thyroid function monitoring should continue in all children with hyperthyrotropinaemia until the thyroid function tests have normalised.
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