Endocrine Abstracts

Introduction: The current Endocrine Society guidelines (2010) recommend biochemical and radiological evaluation of men with HH to ascertain underlying hypothalamic and/or pituitary aetiology although the cost-effectiveness of this strategy is yet to be established. We did a retrospective audit to ascertain epidemiology, management and diagnostic outcomes for men with HH in our hospital practice against the current Endocrine society guidelines.Methods: A ...

Background: In December 2017, a Nurse-Led AI clinic was introduced at University Hospital of Wales, Cardiff for the evaluation and follow-up of these patients. The clinic pathway was based upon the 2016 European Society for Endocrinology (ESE) guidelines on the management of adrenal incidentalomas.Aim: To evaluate the effectiveness of this new service and the cost-saving benefit.Methods: Electronic and paper-based patient records w...

TSHoma is rare, with an incidence of 1 per million, and <1% of all pituitary tumours. We reported a case involving a 49-year-old female who was first referred to our endocrine unit in 2006 with excessive lethargy and abnormal TFT’s. She was thought to have thyroid hormone resistance for several years until 2015 when she reported having persistent symptoms and further investigation suggested an alternative diagnosis.Results: Ft4=41.6 pmol/l, TSH=...

Introduction: X-linked adrenoleucodystrophy (XALD) is a progressive disorder affecting adrenal glands, testis, and myelin stability, that normally caused by mutations in ABCD1 (NM_000033) gene There is a failure of β-oxidation of fatty acids within peroxisomes due to reduced activity of very long chain acyl-CoA synthetase and can be diagnosed by the demonstration of elevated very long chain fatty acid.Case report: We report a case of a 32-y...

: A family with generalised resistance to thyroid hormone secondary to a missense point mutation in thyroid hormone receptor β (TR-β) gene corresponding to substitution of arginine to histidine at amino acid 438 (R438H) is described in three successive generations.Case 1: (Index case) A 43 year old lady presented with thyrotoxicosis and was initially treated with carbimazole followed by radio-iodine ablation of the thyroid. Thyroxine was commen...

Objective: Most hypothyroid patients require an optimal dose of 1.6–1.8 μg/body weight (kg) of L-thyroxine to restore a normal TSH. Poor response to treatment can be due to malabsorption, drugs interaction and poor compliance. We conducted a test to determine the likely cause of persistent hypothyroidism in a coeliac patient despite taking supraphysiological doses of L-thyroxine (>1000 μg OD).Case...

Introduction: Multiple endocrine neoplasia, type 2A (MEN 2A) is a hereditary syndrome characterized by medullary carcinoma of the thyroid, pheochromocytoma, parathyroid hyperplasia or adenomas due to mutation in RET oncogene on chromosome 10. Complications can occur as a result of ectopic ACTH causing Cushings syndrome. We present here a case initially presenting to hospital with worsening shortness of breath on a background of metastatic medullary thyroid can...

Arginine vasopressin resistance (AVP-R) (previously termed nephrogenic diabetes insipidus) is well known to be associated with lithium treatment. However, cases are usually mild and patients can almost always compensate for their polyuria with excessive fluid intake. We present the case of a moribund patient who required intensive care admission secondary to AVP-R, developing hypernatraemia to 183mmol/l and serum osmolality of 394mmol/kg. A 68 year old gentleman, on lithium tr...

Background: The short Synacthen test (SST) is frequently used to diagnose adrenal insufficiency; however the role of baseline cortisol. With the recent European shortage of synacthen, there was a pressing need to identify the best possible way to use the resource and rationalize the test. Our aim is to identify whether baseline cortisol can be safely used to rule out adrenal insufficiency in clinical practice.Methods: All SSTs performed at the OPD, Royal...

Hypoparathyroidism post-thyroidectomy is a recognised complication and treated with calcium supplements, vitamin D, and rather recently with recombinant human parathyroid hormone therapy (teriparatide). We report a case of a 68-year-old female who developed refractory hypocalcaemia and hypomagnesaemia following thyroidectomy for a multinodular goitre. Her management was complicated by inflammatory bowel disease, surgically treated with an ileostomy in situ. Post-opera...