Endocrine Abstracts

Generalised resistance to thyroid hormone (GRTH), a subset of the syndrome of resistance to thyroid hormone (RTH), is characterised by variable reduced target tissue responsiveness to circulating thyroid hormones. Plasma thyroid hormone levels are raised and TSH levels inappropriately non-suppressed. We describe a 54-year-old female with GRTH diagnosed from the finding of raised fT4 and fT3 levels coincidental with non-suppressed TSH levels. A thyrotropin (TRH) test resulted i...

We report a rare case of acute myeloid leukaemia (AML) with high risk cytogenetics and associated hypothalamic diabetes insipidus (HDI).A 48-year-old female presented to her GP with a 3-month history of tiredness and lethargy. Full blood count revealed haemoglobin 7.0 g/dl (MCV 103fl), white cell count 12.1×109/l (neutrophils 1.33×109/l), platelets 91×109/l; circulating blast cells were evident on the perip...

Introduction: Anti-TSH-receptor binding antibodies can cross the placenta and can stimulate or inhibit the fetal thyroid, causing fetal and neonatal thyroid dysfunction. We test for these antibodies in all pregnant women with a history of thyroid disease using a TSH binding inhibitor immunoglobulin (TBII) assay. Our aims were to audit our management of TBII positive pregnancies and to review pregnancy outcomes.Methods: Serum TBII concentration was measur...

Introduction: Thyrotropinomas comprise <1% of all pituitary tumours, but detection is increasing with more widespread use of ultrasensitive TSH assays. Although distinct, the classical biochemical signature – hyperthyroxinaemia with non-suppressed TSH – is not specific to thyrotropinoma, as drug effects, non-thyroidal illness, and assay interference can all yield similar patterns of thyroid function tests. Even when these more common confounders have been exclude...

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...