Endocrine Abstracts

Introduction: Thyroid hormones act via receptors encoded by different genes (THRA and THRB) generating receptor subtypes (TRα1, TRβ1, TRβ2) with differing, tissue-specific expression. Resistance to Thyroid Hormone due to THRB defects is well recognised, but no THRA mutations have yet been reported. We describe the first case of human TRα-mediated thyroid hormone resistance due to a dominant negative THRA mutation.Results: A 6-year-old...

Background: It is still uncertain if subclinical thyroid disease or ‘high-normal’ thyroid function are risk-factors for atrial fibrillation (AF).Objectives: To examine the risk of AF in relation to thyroid function.Methods: Patients consulting their general practitioner from 2000–2009 in Copenhagen, Denmark, who underwent thyroid blood tests, were identified by individual-level linkage of nationwide registries. Patie...

Background: Overt hypothyroidism (OH) has repeatedly been associated with a number of potential lethal conditions. However, it is still debated whether OH is linked with increased mortality. Moreover, a link between OH and mortality could be the result of common genetic and environmental factors affecting both OH and mortality. Investigating twin pairs discordant for OH can minimize this potential confounding. Our objective was to investigate, at a nationwide level, whether OH...

Introduction: Hyperthyroidism with diffuse goiter and negative TBII includes Graves’ disease in the early stage or near remission and nonautoimmune hyperthyroidism (NAH) caused by constitutively activating germline mutations of TSH receptor. To verify the NAH in this situation, we examined TSH receptor mutation and followed-up the clinical course.Patients and methods: From 2003 through 2011, 84 patients had hyperthyroidism with negative TBII and dif...

Objective: The role of thyroid hormones in the control of erectile functioning has been only marginally investigated. The aim of this study is to investigate the association between thyroid and erectile function in a general population sample (European Male Aging study, EMAS study) and in patients seeking medical care for sexual dysfunction (University of Florence Study, UNIFI study).Participants: Two different cohorts of subjects were evaluated. The fir...

Introduction: The guidelines of American Thyroid Association from 2011 include age over 30 as one of the risk factors for hypothyroidism in pregnancy. The aim of our study was to verify whether age increases the risk of autoimmune thyroid diseases (AITD) in pregnant women.Methods: We performed a cross-sectional study in 5223 unselected consecutive pregnant women in the 9th–12th gestational weeks. In a single laboratory, we measured serum concentrati...