Endocrine Abstracts

Introduction: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD CAH) is a rare genetic disorder resulting in impaired cortisol biosynthesis, increased steroid precursors, and excess androgen production. Inhibition of adrenocorticotropic hormone (ACTH) release via antagonism of the corticotropin-releasing factor-1 (CRF1) receptor could reduce adrenal androgen production, thereby reducing the amount of exogenous glucocorticoids required for androgen ...

Background: Hypertension is one of the widespread cardiovascular pathology in patients with primary hyperparathyroidism (PHPT).The renin-angiotensin-aldosterone system (RAAS) is a key system in the regulation of blood pressure and its interactions with mineral metabolism are described. Our previous study* of PHPT patients revealed a significant decrease in plasma renin activity (PRA) and serum aldosterone levels in the early postoperative period and also positive correlations ...

Background: Cushing’s disease (CD) develops as a result of ACTH-secreting pituitary adenoma. Transsphenoidal selective surgery (TSS) is the first-line therapy, and success is largely determined by the experience of the surgeon. There are several reasons for the persistence of the disease, but it is almost impossible to predict such an outcome in advance, which leads to multiple interventions and has a pronounced effect on the quality of life of patients.<p class="abs...

Background: To characterize the diagnostic performance of 18-Fluoroethylcholine-PET-CT (FCH-PET-CT) to localize parathyroid adenomas (PA) in primary hyperparathyroidism (pHPT) when ultrasound (US) and MIBI-Scan (MibiS) fail to localize – intraoperative correlation and one-year follow up.Method: Beginning in 07/2017 18-FCH-PET was employed in patients with proven pHPT in whom US and MS delivered either incongruent or negative findings. All patients ...

Background: GH resistance or primary IGF1 deficiency (PIGFD) presents with growth failure, low serum IGF1 and normal/elevated serum GH. PIGFD comprises a spectrum of phenotypic and biochemical abnormalities for which genetic GH–IGF1 axis defects may be causative.Objective: Genotyping of PIGFD patients referred for sequencing of candidate genes.Methods: From 2008 to 2013, 62 patients (42 males and 20 females), median age 6.9 ye...

Background: Recent reports suggest that female sex could be an indicator of better response to liraglutide in patients included in clinical trials.Aim: To compare efficacy of liraglutide in women and men with type 2 diabetes mellitus (T2DM), in real clinical practice.Patients and methods: Our study included 116 patients with T2DM and obesity (BMI >30) attending outpatient clinic, which initiated with liraglutide (0.6 mg/daily f...

Background: It is well established that subclinical hypothyroidism (SCH) is associated with mild ventricular dysfunction and early cardiovascular disease (CVD), but it is unknown if there is an underlying defect in cardiac bio-energetic function.Objective: To quantify the cardiac phosphocreatine/ATP (PCr/ATP) ratio in SCH, compare with healthy controls (HC) and to measure the effect of 6 months of thyroxine treatment.Method: Cardia...

Familial glucocorticoid deficiency is an autosomal recessive disorder characterised by resistance to ACTH of the adrenal cortex, leading to isolated glucocorticoid deficiency and life-threatening hypoglycaemia. Half of all cases are caused by mutations in MC2R, MRAP, MCM4 or STAR. Recent work in our group has identified defects in nicotinamide nucleotide transhydrogenase (NNT) to be causal in a further 10% of cases. NNT generates the high con...

Background: Familial Glucocorticoid Deficiency is an autosomal recessive disorder characterised by ACTH resistance of the adrenal cortex, leading to isolated glucocorticoid deficiency. Causative genes include MC2R, its accessory protein MRAP and StAR which account for 50% of cases. Recently nicotinamide nucleotide transhydrogenase (NNT) has been associated with a further 10% of cases. NNT generates the high concentrations of NADPH in mitochondria necessary for detoxification o...

Introduction: Most (89%) UK units offer some form of free patient choice for new paediatric patients commencing GH therapy. Initial data indicates that patient choice improves adherence, resulting in improved growth (height velocity) short-term.Objective: To compare outcome measures between patients offered free choice and/or hospital supply (including home services and adherence tracking assessed using ampoule counting) with GH therapy with those who di...