Endocrine Abstracts

Three siblings of Pakistani origin presented shortly after birth with failure to thrive and hyperkalemia and were found to have isolated hyperreninaemic hypoaldosteronism. They were all well controlled on fludrocortisone therapy during childhood and adolescence. When reassessed in adult life off fludrocortisone treatment, hyperreninaemic hypoaldosteronism was confirmed in all subjects, but with significant hyperkalemia in only one case. None of the subjects developed orthostat...

The nuclear receptor PPARgamma is important for biological processes including adipogenesis and glucose homeostasis. In subjects with severe insulin resistance, we have previously reported two types of human PPARgamma gene defect: heterozygous, missense mutations (P467L, V290M) in the ligand binding domain (LBD) which inhibit wild type (WT) receptor action in a dominant negative manner by recruitment of transcriptional corepressors; or double heterozygosity for a frameshift/pr...

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...