Endocrine Abstracts

Aim: To evaluate whether anthropometric indices and acanthosis nigricans can be useful markers for early detection of Insulin Resistance and Metabolic Syndrome (MetS) in overweight and obese children.Methods: Data from 510 prepubertal children (40% boys), 12.9% overweight and 87.1% obese with mean age 9.7±2.5 years were analyzed. Logistic regression analysis was used to investigate which factors were associated with HOMA-IR >3 and metabolic synd...

Nicotinamide nucleotide transhydrogenase (NNT) is a highly conserved inner mitochondrial membrane protein, which supplies high concentrations of NADPH for detoxification of reactive oxygen species (ROS) by glutathione and thioredoxin pathways. In humans, loss-of-function mutations in NNT cause familial glucocorticoid deficiency, a potentially fatal, adrenal specific disorder characterized by increased levels of ACTH and low levels of cortisol. Nnt−...

Nicotinamide nucleotide transhydrogenase (NNT) is a NADPH-generating mitochondrial proton pump with a central role in mitochondrial antioxidant pathways. Recent studies revealed inactivating NNT mutations in patients with familial glucocorticoid deficiency, indicating a selective susceptibility of the adrenal cortex to NNT deficiency and oxidative stress. Here we explored the potential value of NNT as a therapeutic target in adrenocortical cancer. We delineated the distinct ef...

Familial glucocorticoid deficiency (FGD) results from the inability of the adrenal cortex to produce cortisol in response to ACTH stimulation and can be fatal if unrecognised. The disease manifests clinically with increased ACTH and reduced cortisol levels. Our group has recently demonstrated that oxidative stress is implicated in the pathogenesis of this disorder.We previously identified mutations in nicotinamide nucleotide transhydrogenase (NNT) in pat...

Rheumatoid arthritis (RA) is known to be associated with cardiovascular comorbidity. In particular, patients with RA are known to be at increased for the development of atherosclerosis. Treatment with biological agents in RA may affect lipid levels.Aim: The aim was to study the effect of rituximab treatment on lipid levels in RA patients.Methods: In a cohort of 20 patients with RA lipid levels were studied before, 6 and 12 months a...

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...

Site-discordance in bone mineral density (BMD) assessment is common and affects patient categorization. Greater number of osteoporotic sites correlates with lower T score at each index site. The effect of BMD measurement at the contralateral femur on osteoporosis diagnosis has been previously evaluated.The aim of the study was to investigate the effect of BMD measurement at the contralateral femur on osteoporosis diagnosis.M...

Biological agents have been successfully introduced in the therapeutics of autoimmune diseases, in particular rheumatoid arthritis and ankylosing spondylitis. However, their use has been found to increase the risk of serious infections and neoplasms. Infliximab, a neutralizing antibody to tumor necrosis factor-alpha, appears to be effective therapy in ankylosing spondylitis. Tumor necrosis factor (TNF) plays an important role in host defense and tumor growth control. Therefore...

Aberrant hormone receptors have been demonstrated in macronodular adrenal hyperplasia or, rarely, unilateral adenomas causing Cushing’s syndrome but their prevalence in adrenal incidentalomas (AI) remains uncertain. Therefore we evaluated patients with bilateral AI for evidence of abnormal response to physiological stimuli. We also compared their biochemical characteristics with those of patients with unilateral AI.Assessment of adrenal function was...