1Beacon Hospital, Ireland
The syndromes of Resistance to Thyroid Hormone (RTH) are a group of rare disorders that cause relative tissue resistance to the effect of thyroid hormone (TH). Each syndrome has a genetic basis, unique phenotype, and most have a distinct biochemical profile, but nonetheless they remain difficult to diagnose. In this session, I will focus on the presentation, diagnosis and management of two forms of RTH, in childhood and adulthood. RTH beta is characterised by raised thyroid hormones, non suppressed TSH and variable tissue sensitivity to thyroid hormone, often with thyrotoxic features. RTH alpha, more recently identified, causes profound tissue hypothyroidism, despite normal TH levels. At the end of the talk, the audience will be familiar with the presenting features, typical biochemical profile and underlying pathogenic basis RTH alpha and beta, and will be aware of the therapeutic options available for affected patients.