Endocrine Abstracts

Introduction: Resistance to thyroid Hormones (RTH) is a syndrome characterized by reduced tissue responsiveness to thyroid hormones (TH).This results to constantly elevated levels of TSH despite high levels of free T3 (FT3) and free T4 (FT4).RTH is due to mutations of the gene encoding the b-isoform of the receptor of TH (THR-b gene), inherited in the autosomal dominant manner.Clinical expression of RTH varie...

Introduction: Resistance to thyroid hormones (RTH) is a genetic disorder caused in 85% of cases by mutations in thyroid hormone receptor beta gene (TRβ). The current information about it in Spanish population is scarce, limited to case reports or short series of patients. Thus, we aimed to describe the clinical, biochemical and genetic features of Mediterranean patients with RTH referred to our institution (one of the referral centres in Spain) for genetic testing during ...

Most kindreds of familial isolated pituitary adenomas (FIPA) with mutated AIP develop somatotropinomas, characterized by an aggressive clinical phenotype including early age at diagnosis, large tumours and frequent invasiveness. In non-family cases, the prevalence of AIP mutations in pituitary adenomas is lower than 10%. There is no information of AIP prevalence in isolated somatotropinomas characterized by poor response to conventional treatment.Aim: To...