Endocrine Abstracts

Thyroid hormone resistance is a rare condition, caused by mutations of the thyroid hormone receptor beta (THRB) gene, inherited in an autosomal dominant manner, resulting in decreased tissue sensitivity to thyroid hormone action, leading to high FT4 levels with normal TSH levels. We present a case of thyroid hormone resistance, initially misdiagnosed and treated as hyperthyroidism. An 8 year old girl was referred due to poor appetite, FT4 level was elevated (38.5 pmol/l) with ...

A 58-year-old non-diabetic Caucasian man was admitted with a capillary glucose of 1.9 mmol/l following an episode of confusion and disorientation. During his admission he had frequent episodes of nocturnal and early morning hypoglycaemia with capillary glucose <3.0 mmol/l. After 21 h of supervised fasting he was symptomatic with plasma glucose 2.3 mmol/l, insulin >1000 mU/l and C-peptide 19.6 μg/l. Sulphonylurea screen was negative. Given the magnitude of serum in...

A 60-year-old man presented with symptomatic primary hyperparathyroidism. At this time serum corrected calcium was 3.1 mmol/l (2.15–2.65 mmol/l) and after investigation bilateral parathyroid exploration was performed. A suspected adenoma was identified in the right inferior gland and removed. The remaining glands appeared normal. The adenoma was confirmed histologically. Early post-operative calcium was normal (2.48 mmol/l).He remained well and calc...

A 45-year-old man who works as a psychotherapist was referred with an incidental finding of a rudimentary uterus and bilateral pelvic gonads on pelvic computerized tomogram and magnetic resonance imaging. This was performed for investigation of abdominal pain which has since settled. As far as he is aware he was born without complications and developed normally through childhood. He progressed through puberty uneventfully with voice changes by 13 years and shaving by 16 years....

The Endocrine Society recommends urinary or plasma metanephrines as first choice screening tests for phaeochromocytoma due to their high sensitivity. Test specificity is limited by the influence of many commonly prescribed medications resulting in false positive results and additional investigations. The aims of this retrospective study were to (1) Determine the diagnostic accuracy of urinary metanephrines using current cut-off values and (2) Evaluat...

The Endocrine Society recommends urinary or plasma metanephrines as first choice screening tests for phaeochromocytoma due to their high sensitivity. Test specificity is limited by the influence of many commonly prescribed medications resulting in false positive results and additional investigations. The aims of this retrospective study were to (1) Determine the diagnostic accuracy of urinary metanephrines using current cut-off values and (2) Evaluat...

There is limited evidence on the effect of potassium (K+) supplementation on endothelial function. Three studies suggest a beneficial effect in healthy volunteers and mild hypertensives. However potassium increases aldosterone due to a direct effect on the adrenal gland and there is evidence that aldosterone excess is detrimental to cardiovascular health. We therefore aimed to determine the effect of potassium supplementation on endothelial function in patients with...

Cyclical Cushing’s syndrome is typically detected by collecting sequential daily early morning urine (EMU) samples for cortisol to creatinine ratio over a 28 day period. More recently nocturnal salivary cortisol (NSC) measurement has been shown to be a sensitive means of screening for Cushing’s syndrome. The Endocrine Society have suggested that NSC may be used to assess patients for cyclical Cushing’s however there is limited evidence that it correlates with th...

Aberrant and upregulated eutopic receptors have been identified in vitro in patients with primary aldosteronism (PA). We previously identified an exaggerated aldosterone response to synacthen in patients with PA versus healthy controls. In this study we aimed to evaluate whether the synacthen test differentiates between patients with PA and essential hypertension (EH). The 250 mcg intramuscular synacthen test was performed after 30 minutes recumbency in the morning and off int...

A 27 years old girl presented with weight gain, hirsutism, fatigue, bruising and striae. On examination she was Cushingoid. On initial assessment, 3 out of 4 24 h urinary free cortisol collections were elevated. 0800 h serum cortisol was 280 nmol/l after 1mg dexamethasone given at 2300 h. After formal 48 h low and high dose dexamethasone suppression tests cortisols were 164 and 34 nmol/l respectively. Basal 0800 h ACTH was 33 ng/l. Given the clinical features and the discrepan...