Endocrine Abstracts

Aims: Emerging data indicate that an impaired release of adipose tissue-derived adipokines could play a pivotal role in the development of non-alcoholic fatty liver disease (NAFLD). We aimed to evaluate whether circulating levels or visceral adipose tissue (VAT) expression of recently described adipokines associate with the histopathological disease severity and thus may contribute to the progression of pure fatty liver into an inflammatory and insulin resistant NASH status.</...

Introduction: Persistent endogenous hyperinsulinemic hypoglycemia in neonates (congenital hyperinsulinism; CHI) is usually due to monogenetic gene variants affecting the insulin secretion. The genetic cause is known in about 50% of patients. We present a new variant within the short-chain L-3-hydroxyacyl-CoA dehydrogenase (HADH) gene causing CHI in two cousins.Methods: The cases of two patients with CHI are presented with a follow-up of >30 ...

Context: KISS1R mutations have been implicated in patients with normosmic congenital hypogonadotropic hypogonadism (nCHH) (OMIM #146110).Objective: To describe in detail nCHH patients with biallelic KISS1R mutations belonging to two unrelated families, and to functionally characterize a novel KISS1R mutation.Results: The p.Tyr313His original mutant was found in the homozygous state in three affected kindr...

Aims: Second-generation antipsychotics (SGA), especially clozapine and olanzapine, are associated with increased metabolic risk. Plasma adiponectin levels, vary in schizophrenia patients as in the general population according to gender, adiposity and metabolic syndrome (MetS).Here, we investigated whether different SGAs differentially influence plasma adiponectin levels independent of body mass index (BMI) and MetS status.Methods: ...

To maintain a proper lipid composition of cellular membranes is fundamental for cell viability and intracellular signalling. Therefore we hypothesised the existence of membrane quality control homeostatic mechanisms. Previously, we have shown that Pyruvate Carboxylase (PC), an enzyme involved in de novo lipogenesis and fuel partitioning, is a target of PPARγ and that PC level is decreased in PPARγ KO and obese insulin resistant mouse models. Here, we used RNAi...

Objective: Acylation Simulating Protein (ASP) has been shown to regulate lipid clearance and glucose uptake in adipose tissue. In vitro studies demonstrate that insulin stimulates ASP secretion from adipocytes. Individuals with obesity and/or metabolic disturbances (insulin resistance and type 2 diabetes) have increased plasma ASP, suggesting ASP resistance. Therefore, the present study evaluates whether ASP levels are influenced by the metabolic profile of overweight and obes...

Objective: The adipocytokine visfatin, expressed in abdominal adipose tissue (AT) is thought to mimic insulin activity. However, whilst central adiposity is closely related to insulin resistance (IR) and T2DM, visfatins’ role in the development of these conditions remains unclear.Method: We investigated circulating visfatin levels in non-diabetic (ND) and diabetic (T2DM) subjects and in T2DM patients pre- and post- rosiglitazone (RSG) treatment. We ...

The aims of this study were to determine the prevalence of pituitary dysfunction in patients keeping neuropsychological disabilities long after TBI (at least 1 year), to research predictive factors and to evaluate consequences of endocrine abnormalities on metabolism and quality of life in these patients.We studied 50 patients (42 men, mean age 36, range 20–59 years, mean BMI 25, range 17–42 kg/m2) who had survived severe (n=3...

BackgroundPolycystic Ovary Syndrome (PCOS) is the most prevalent endocrine disorder in women of reproductive age. The main components are hyperandrogenemia and oligo-/amenorrhea. The pathophysiology of PCOS is not fully understood which is why no causal treatment options are available. A multitude of observational studies demonstrated elevated C-reactive protein (CRP) levels in patients with PCOS compared with weight-matched controls. CRP is a sensitive ...

Of 563 genes involved in multiple processes of development of hypothalamo-pituitary-gonadal (HPG) axis during embryogenesis, mutations in 62 genes cause delayed puberty. We selected 6 of 37 delayed puberty patients for whole exome sequencing (WES) based on advanced age (>18 years) and severity of disease symptoms. Genomic DNA extraction was done using Qiagen kit at Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan. DNA samples were taken to ANZAC Researc...