Endocrine Abstracts

Hypothyroidism is the most frequent innate endocrine disorder, reaching a prevalence of 1 in 1200 newborns. Defects causing hypothyroidism occur at any level of the hypothalamus-pituitary-thyroid axis, but also at peripheral tissues, where alterations of intracellular transport, deiodination or nuclear action of thyroid hormone have been described in humans.In recent decades, molecular research found evidence that hypothyroidism is a genetic disease. Def...

The adequacy of thyroid hormone replacement in hypothyroid subjects has long been debated. A proportion of subjects on thyroxine report not achieving their pre-disease level of well-being and evidence from community studies suggest impaired well-being in subjects on thyroxine compared to the general population. Our work on the large HUNT 2 cohort from Norway confirms this and furthermore revealed that subjects on thyroxine have a different relationship between TSH and well-bei...

Pendred syndrome (PS) is an autosomal, recessive disorder characterized by sensorineural deafness, goiter, and a positive perchlorate test. PS, one of the most common forms of syndromic deafness, is caused by biallelic mutations in the SLC26A4 gene, which encodes the anion transporter pendrin. Functionally, pendrin can serve as an exchanger of several anions including chloride, bicarbonate and iodide. Pendrin is expressed in the inner ear, the thyroid and the kidney.</p...

The treatment of thyroid cancer has not changed substantially for several decades, in contrast to most other tumour types. Total thyroidectomy and administration of ablative radioiodine remain the cornerstones of the therapeutic regimen, which is associated with a good 5-year survival rate. Nonetheless, thyroid cancer treatment is not perfect, and several hurdles remain to be overcome. Radioiodine ablation of differentiated thyroid cancers and their metastases utilises the abi...