ea0034pl6 | BTA Pitt-Rivers lecture | SFEBES2014
Chatterjee Krishna
Disorders of thyroid hormone action are classified broadly, to encompass conditions with defective cellular uptake, metabolism or nuclear action of thyroid hormones. Mutations in SECISBP2 cause a multisystem disorder of defective selenoprotein synthesis, with features due to tissue-specific selenoprotein deficiencies (e.g. male infertility, muscular dystrophy), raised cellular reactive oxygen species due to lack of antioxidant selenoenzymes (e.g. photosensitivity, increased ad...