Endocrine Abstracts

An atypical form of resistance to thyroid hormone (RTH) leads to retarded growth and bone age in humans. Aberrant thyroid hormone levels (high T4, low T3, elevated rT3 and high/ normal TSH) indicate a defect in deiodinase-dependent thyroid hormone metabolism. Findings of reduced concentrations of plasma selenoproteins (SePP, GPx3) suggested a generalized defect of selenoprotein biosynthesis and led to the identification of mutations in the SECISBP2 gene. SECISBP2 is thought to...