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Thyrotropin-Stimulating Hormone Receptor Gene Analysis in Pediatric Patients with Non Autoimmune Subclinical Hypothyroidism
Journal of Clinical Endocrinology and Metabolism, 10/15/09
Nicoletti A et al. – To date, this study demonstrates the highest prevalence (29%) of TSHR gene mutations in children and adolescents with nonautoimmune subclinical hypothyroidism not selected by neonatal screening. Functional studies show that some mutations cause a slight inactivation of the TSHR. This reveals a possible limit of the in vitro study or of the knowledge of mechanisms involving TSHR, or that other candidate genes must be considered.
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