Endocrine Abstracts

Introduction: XX male syndrome is a disorder of sex development associated with a 46, XX karyotype and is characterized by such features as: small testes, hypergonadotropic hypogonadism, male external genitalia, gynecomastia and azoospermia. The estimated prevalence is 1/20.000 males. Gender role and gender identity are reported as male. Identification and subsequent treatment is necessary to avoid the manifestations of testosterone deficiency.Clinical C...

Background: Glycaemia point-of-care testing (POCT) is performed with fingerstick capillary whole-blood glucose measurement. These values normally correlate well with plasma glucose values. Hypoglycemia can be observed with POCT but should always be confirmed on plasma. True hypoglycemia must meet Whipple’s triad: signs/symptoms of hypoglycemia; low plasma glucose; improvement after glucose administration. Artifactual hypoglycemia is defined as a discrepancy between POCT a...

Introduction: Recently, a microduplication of 15q26.3 not including IGF1R was reported in subjects of two families with overgrowth and variable intellectual disability (Leffler M. et al., Eur J Med Gen, 2016).Aim: To report the clinical findings in a third case with overgrowth related to a small microduplication of 15q26.3 not including the IGF1R region.Methods: Comparative genome hybridization was done using an A...

Thyroid storm is a rare complication of thyrotoxicosis, life-threatening if not managed appropriately.We report a 43-year-old woman who presented to emergency services with shortness of breath, palpitations and weight loss. She was pale, cachectic, in atrial fibrillation and had signs of decompensated heart failure. Investigations showed: WBCs: 3.2×109/l, neutrophils 2.1×109/l, Hb 53 g/l, platelet 233, TSH <0.02 mIU/l, FT4 64 (10–25 pm...

AbstractContinuous subcutaneous insulin infusion (insulin pump therapy) is recommended as a treatment option for patients with type 1 diabetes where multiple-dose insulin therapy has failed. These patients are looked after by a specialist multi-disciplinary team and those receiving this treatment should have the commitment and competence to use the pump effectively.We carried out a retrospective study on 33 paediat...

Increased deposition of extracellular matrix (ECM) components such as collagens and hyaluronan is associated with diet-induced insulin resistance (IR) in skeletal muscle. Studies of the role of specific ECM components in muscle IR have been pivotal but incomplete. Here we used an approach (i.e. ECM-specific mass spectrometry-based proteomics) that gives a more complete view of ECM protein abundance with muscle IR. Male C57BL/6 mice were fed with either a chow or high fat (HF) ...

Aim: To audit outcomes and adherence to prescription recommendations in a nurse-led Diabetic Renal Clinic.Method: Baseline data at time of referral to the clinic was compared to the final clinic visit within a 12-month period (T1) of the first visit (T0), using information from clinic letters and electronic records of patients attending the clinic in our hospital between 2010 and 2014. Patients without at least one follow-up data within a 12-month period...

Introduction: Charcot neuroartropathy (CN) is a devastating complication of diabetes rapidly leading to irreversible foot deformity when misdiagnosed. Differential diagnosis with foot infections and other foot-related diseases remains challenging.Case: A 58-year-old woman with type 2 diabetes was hospitalised with a red, swollen left leg and high fever. The diagnosis of erysipelas with a neuropathic wound of the first digit as the entry wound was establi...

Aims: To assess the prevalence, investigations and management of hyponatraemia in hospital inpatients (previously deemed inadequate) over a 2-week period (1–15 May 2013) and compare with data collected in 2011, following the introduction of updated clinical guidelines in our trust.Methods: Hospital notes and electronic records of all patients with a sodium level of <130 mmol/l were analysed.Results: 43/255 (17%) patients h...

Aims: Short synacthen test (SST) is commonly used to diagnose adrenal insufficiency (AI), and with serum ACTH, can help differentiate between primary and secondary AI. The aim of this audit was to evaluate the clinical appropriateness of SST in our endocrine unit.Methods: We looked at all SSTs performed between August 2012 and August 2013. Relevant clinical information was collected from patient notes and database. A SST was considered inappropriate if n...