Endocrine Abstracts

Case history: A 30 years old male Caucasian had his saliva tested on a self-funded commercial DNA testing to identify his ancestral roots. The markers for Y chromosome were found to be absent and further evaluation revealed him to have 46 XX karyotype.This was consistent with the diagnosis of De la Chapelle syndrome or XX male syndrome. Fluorescence in situ hybridization (FISH) studies confirmed the presence of SRY (sex determining region Y) gene which was responsible...

Aim: To assess whether using urine catecholamines as a second line investigation has affected clinical decision making in patients with suspected pheochromocytoma and paraganglioma.The need for the audit: New society of endocrine guidelines in June 14, have recommended using urine metanephrines as the initial screening test for PPGL. Current practise at University Hospital Wales is to offer urine catecholamines as the second line test to patients with a ...

Case history: A 24-year-old previously healthy male presented to his GP with unilateral “gynaecomastia”, prompting investigations which showed a low FSH of 0.7 (1–12 IU/l). He had normal libido, erectile function, and a normal sense of smell. He had no children. He was subsequently investigated for persistent dysuria but imaging and cystoscopy were entirely normal. He was a non-smoker who took little alcohol and worked as an insurance agent. His past medical his...

Case history: A 53-year-old obsessive body builder, presented with severe constipation. He had used growth hormone, anabolic steroids and testosterone at variable doses for over 20 years. He had a protein intake of over 400 g/day over an extended period. He denied osmotic symptoms, joint or muscle pains, and excessive tiredness. Previously, he had benign prostatic hyperplasia and renal stone disease but was not on any prescription medication and took no over the counter ‘...

Case history: A 49-year-old male with hypertension (on doxazosin, amlodipine and perindopril), obesity (BMI 40 kg/m2) and recent DVT (on warfarin) presented with a few months’ history of episodic headaches, palpitations, light-headedness and sweats accompanied by facial pallor, occurring around twice weekly without warning. Symptoms were often worse when upright. Spontaneous recovery followed. He did not have a family history of endocrine disease. Clinical exam...

Introduction: Short Synacthen tests (SST) are expensive, inconvenient, time consuming and subject to Synacthen availability. Any strategy reducing the need for SSTs will improve its cost effectiveness and also improve patient satisfaction. In this regard indications for SST and assay specific pre-test cortisol levels (not all SSTs are done at 0900 h) may have clinical utility.Methods: We retrospectively examined the indications for, time and place of tes...

Introduction: Graves’ disease (GD) is associated with cardiac complications like tachydysrythmias, coronary ischaemia and cardiomyopathy. They are uncommon in the young. We present three individuals without previous cardiac disease, who developed significant cardiac complications of GD.Case presentations Subject 1: A 34-year-old female smoker, presented with breathlessness, palpitations, tremors and agitation for several weeks. Her fT4 was ...