AI Article Synopsis
- Early detection and treatment of childhood hypothyroidism is crucial to avoid developmental issues, usually identified through routine neonatal screening for high thyrotropin levels.
- An adolescent case showed developmental delays due to a rare form of hypothyroidism with normal thyrotropin levels, highlighting the complexity of the condition.
- Dynamic testing revealed an overly sensitive feedback system between the pituitary and thyroid, emphasizing the need for careful diagnostic evaluation to prevent long-term developmental consequences.
Article Abstract
Recognition and treatment of childhood hypothyroidism is essential to prevent serious developmental abnormalities, and neonatal screening based on detection of raised thyrotropin concentrations is routine. We investigated an adolescent who had developmental retardation because of an undiagnosed and novel cause of childhood hypothyroidism associated with normal circulating thyrotropin concentrations. Dynamic testing showed a hypersensitive pituitary-thyroid feedback axis with no evidence of other pituitary or hypothalamic disease, and sequence analysis of four candidate causative genes was negative. A high index of suspicion is required to diagnose and treat this disorder to prevent the consequences of long-term hypothyroidism on development.
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| http://dx.doi.org/10.1016/s0140-6736(00)02791-4 | DOI Listing |
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