Endocrine Abstracts

Diabetes insipidus (DI) is a clinical syndrome characterised by inappropriate hypotonic polyuria. Urine flow rates in excess of 40 mL/kg per 24 h in adults, or more than 100 mL/kg per 24 h in infants are suggestive of diabetes insipidus. Correct diagnosis often requires the use of the water deprivation test. DI may be central or nephrogenic, and results in inappropriate renal water loss. The majority of patients with DI are able to maintain a normal plasma sodium even in the a...

Traumatic Brain Injury (TBI) is a devastating neurological emergency, usually resulting in transient or permanent neurological dysfunction. It is the most common cause of death and disability in young adults in industrialised countries and is a major public health problem. Although anatomical pituitary damage following TBI was first recognised as long ago as 1918, evidence of hormonal dysfunction in both the acute and chronic phases following TBI had only been studied in detai...

Familial isolated growth hormone deficiency is exceedingly rare. We present two siblings of non-consanguineous parents with this syndrome and describe their response to growth hormone therapy. We have also carried out a mutational analysis of their GH1 and GHRH-R genes.A mutation scan of the entire coding region and flanking intronic sequences of GH-1 and GHRH-R was undertaken in both index cases and parents. GH1 and GHRH-R mu...

Bone turnover markers (BTMs) may have a role in assessing bone turnover and response to intervention in Paget’s disease. We examined the clinical utility of bone turnover markers at diagnosis through analysis of our database of patients with radiographically confirmed Paget’s disease.We identified 36 patients (20 men); mean age at diagnosis was 71.6 years (range 54–84). Radionuclide imaging identified that 64% had polyostotic disease, with...

Introduction: The management of diabetic gastroparesis resistant to medical therapy is very difficult – the most severely affected patients often spend many days as hospital inpatients with intractable nausea and vomiting and consequent dehydration, leading to a marked reduction in quality of life. Recently, gastric pacing (also known as gastric electrical stimulation (GES)) has been tried in these patients as a means of correcting the physiological deficit. It has shown ...

Introduction: Patients who are severely affected with diabetic gastroparesis tend to spend many days as hospital inpatients with intractable nausea and vomiting and consequent dehydration. In patients who do not respond to promotility agents, gastric electrical stimulation (GES) is an option. This is a relatively new therapeutic modality which has shown promise in international trials. It has seen use in a very limited number of patients in Ireland. Here we outline our experie...

Context: Patients with hypopituitarism have increased morbidity and mortality. There is ongoing debate around the optimum glucocorticoid replacement therapy.Objective: To assess the effect of glucocorticoid replacement in hypopituitarism on corticosteroid metabolism and its impact on body composition.Design and patients: We assessed the urinary corticosteroid metabolite profile (using gas chromatography/mass spectrometry) and body ...

Primary aldosteronism (PA) is an important cause of hypertension which confers significant cardiometabolic risk. In approximately half of cases, the cause is a surgically resectable unilateral aldosterone-producing adrenal adenoma, making PA the most common potentially curable form of hypertension. Despite this, long-term data on surgical outcomes that could be used to guide discussions with patients are sparse. Here, we report on clinical outcomes several years post-adrenalec...

Context: The economic and logistic burden of screening for hypopituitarism following moderate/severe traumatic brain injury (TBI) is considerable. Published guidelines suggest prioritisation for screening of patients with symptoms of pituitary dysfunction.Objective: To evaluate the implementation of targeted symptom-based screening for hypopituitarism after moderate/severe TBI, compared with routine consecutive screening.Design: Gr...

Fine-needle aspiration biopsy (FNAB) is the tool of choice for evaluating thyroid nodules but there is a significant percentage of insufficient or indeterminate aspirates and falsely reassuring results have been reported in up to 6% of cases.We aimed to examine our experience with FNAB among a large cohort of unselected patients with thyroid nodules.239 consecutive patients (211 women) underwent FNA of a thyroid nodule between July...