Endocrine Abstracts

Background: Adults with GH deficiency (GHD) have altered body composition with an increase in abdominal fat when compared with healthy matched controls. However, most studies have not compared GHD adults with GHD adults on GH replacement.Abdominal fat is composed of subcutaneous abdominal tissue (SAT) and visceral abdominal tissue (VAT). Increased VAT is associated with poor metabolic outcomes. Magnetic Resonance Imaging (MRI) is a reliable and reproduci...

Introduction: Mitochondria are critical organelles which generate most of the energy (ATP) in the eukaryotic cell by oxidative phosphorylation. Impaired mitochondrial function will, therefore, restrict myocellular function. Vitamin D deficiency is widely prevalent with fatigue amongst its commonest manifestation. 31P-MRS is a non-invasive technique used to measure skeletal muscle bioenergetics in vivo. We have examined the relationship between vitamin D and mitochon...

Introduction: Even though fatigue is a common complaint in GH deficiency (GHD), its pathophysiology remains poorly understood. Fatigue can reflect central or peripheral disease processes. 31-Phosphorus magnetic resonance spectroscopy (31P-MRS) is a non-invasive technique used to measure skeletal muscle bioenergetics in vivo. Specifically, mitochondrial oxidative phosphorylation and proton efflux can be measured dynamically and in ‘real time’. The ai...

A 37 year old gentleman with no significant past medical history presented with 2 day history of acute onset headache, nausea, vomiting, photophobia and fever. He was pyrexial. He had no focal neurological deficit but marked neck stiffness. His inflammatory markers were raised. CT head showed large pituitary tumour. He was started on Dexamethasone and IV Ceftriaxone and transferred to tertiary centre. MRI brain showed large pituitary macroadenoma projecting into right cavernou...

Background: Sotos syndrome is an uncommon condition characterised by rapid growth, large body size and acromegaloid facies.There is limited data on metabolic abnormalities in Sotos syndrome.Aims: We investigated insulin sensitivity and secretion rates in a 22 year old girl with Sotos syndrome, prompted by the observation of a flat glucose response after an oral glucose challenge.Methods: Glucose tolerance was assessed with a 75g 2-h oral glucose tolerance test (OGTT), ...

Polycystic ovarian syndrome (PCOS) is the commonest cause of hyperandrogenism in women. Severe hyperandrogenism or virilisation, however, suggest the need to consider rarer causes e.g. Cushing's, congenital adrenal hyperplasia and androgen-secreting tumours. Here we present a case of PCOS where the remarkable response of severe hyperandrogenism with polycythaemia to metformin excluded these rarer causes without the need for complex or invasive investigation.<p class="abste...

Background: Previous reports suggest that epilepsy and autism are more common in children with autoimmune diseases such as type 1 diabetes (T1D). While each condition is common in the general population, only small numbers of children have the two conditions together, so there is currently little coordinated support. We sought to describe the incidence in our own population.Methods: Retrospective review of the Diamond database and clinical notes for chil...

Background: Melatonin and cortisol production demonstrate circadian rhythms; disruption of these rhythms feature in endocrine and neurodegenerative disorders, such as Addison’s disease, Huntington’s disease (HD) and Alzheimer’s disease (AD). Measuring serum and saliva concentrations at nadir is challenging using immunoassays. We have developed LC-MSMS methods for measuring serum and saliva melatonin, cortisol and cortisone to analyse 24hr profile samples obtained from sleep st...

Background: Guidance on pubertal-induction in hypogonadal adult men is sparse. For adolescent boys, in whom delay is usually constitutional, treatment is typically initiated with pulsed low-dose IM testosterone (T); the dose being progressively increased if/when it becomes clear that endogenous gonadotrophin secretion is not being initiated. In teenagers with organic hypogonadism, the aims are to recapitulate the normal tempo of puberty over 2–3 years and optimise linear ...

Introduction: Hyponatremia (HN) is the most common electrolyte disorder of hospitalized patients (pts). It occurs in up to 28% of in-pts, increases the in hospital risk of death by 1.47 fold, and is associated with significantly higher mortality risk following discharge. The HN Registry is the first large scale, international effort to document the clinical characteristics, treatments used, and impact of HN in hospital settings.Methods: After informed co...