Endocrine Abstracts

Thyroid hormones act via receptor subtypes (TRα1, TRβ1, TRβ2) with differing, tissue-specific expression. We describe two unrelated cases of Resistance to Thyroid Hormone mediated by defective TRα1. Proband one (P1 female, age 6yrs) presented with lower segmental growth retardation (height < 10th centile), skeletal dysplasia (delayed bone age, femoral epiphyseal dysgenesis, delayed fusion of cranial sutures) and severe constipation. Proband two (P2, fem...

Many endocrine disorders exhibit a distinctive biochemical or clinical phenotype and I will illustrate how our research has provided novel genetic and physiological insights into hormone action in the human context. Isolated deficiency of follicle stimulating hormone (FSH), due to loss-of-function mutations in the FSHβ subunit gene, presents with primary amenorrhoea or male infertility. In females, ovarian follicles are preserved and treatment with exogenous FSH induces c...

We have screened the human PPARγ gene in a cohort of subjects with severe insulin resistance and identified defects in nine unrelated families. Heterozygous mutations in affected individuals cosegregate with a phenotype which includes stereotyped (gluteal, limb) partial lipodystrophy, early-onset hypertension, dyslipidaemia and hepatic steatosis. Pathogenesis of the phenotype involves abnormal metabolism of dietary fat intake, with elevated circulating lipids and fat oxid...

Objective: To evaluate the outcome of fine needle aspiration biopsy (FNAB) of solid thyroid nodules, and the utility of thyroid ultrasound in determining the nature of solid nodules in our practice.Methods: We reviewed the diagnostic outcome of FNAB of solid thyroid nodules in 93 patients from our dedicated thyroid biopsy clinic. In addition we compared the predictive value of sonographic assessment with FNAB in a subset of patients who had undergone bot...

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...

Whilst surgery and external beam radiotherapy remain cornerstones of the management of acromegaly, recent guidelines have emphasised the importance of adjunctive medical therapy [e.g. with somatostatin receptor ligands (SRLs), dopamine agonists, growth hormone (GH) receptor antagonists] in attaining 'safe' GH and insulin like growth factor 1 (IGF-1) levels, especially in patients who are not 'cured' following primary intervention. Several studies have established the efficacy ...

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...

Guidelines for the use of Growth Hormone (GH) replacement in adults with GH deficiency (GHD) were published by the National Institute for Clinical Excellence (NICE) in 2003. We undertook an audit to ensure that patients attending our adult endocrinology clinic were being prescribed GH in accordance with NICE guidelines.Patients commenced on GH replacement between June 2004 and June 2005 were included in the audit. Data was collected from medical notes, a...

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...

Radioiodine (RAI) is widely used for the treatment of thyrotoxicosis. The efficacy and hypothyroidism rate following a single dose of RAI is variable and the optimum administered dose – sufficient to achieve remission but with an acceptable low hypothyroidism rate, is still debated.Our audit sought to compare the results of local practice with published rates of success and hypothyroidism following RAI. We also examined the relationship between trea...