Endocrine Abstracts

Background: Phosphatidylinositol-3-kinase (PI3K) is a critical mediator of insulin action, and influences cellular growth, survival and metabolism. Recently, somatic gain-of-function mutations in the p110α catalytic subunit of PI3K (PIK3CA) have been found in a spectrum of overgrowth disorders, outlining the possibility of treatment with inhibitors of the PI3K–AKT–mTOR pathway.Methods/Results: A 37-year-old female, presented with life-long...

Dysregulation of the enzymes that control local tissue steroid metabolism has been implicated in the pathogenesis of obesity and insulin resistant states, however longitudinal changes in glucocorticoid metabolism over time have not been investigated. This study was designed to evaluate the role of pre-receptor glucocorticoid metabolism in the development of insulin resistance and obesity. 24 h urinary glucocorticoid and mineralocorticoid metabolites were measured by gas chroma...

Introduction: Non-classical congenital adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency is one of the most frequent autosomal recessive diseases. Genetic analysis performed for genetic counselling revealed a miscorrelation with the clinical diagnosis in several patients at our centre.Aim: Confirm the genetic diagnosis of NCCAH in women attended for this condition.Materials and methods: Consecutive patients attended at o...

Clinical, epidemiological and in-vitro studies have found evidence for an association between Vitamin D and diabetes. Vitamin D receptors are found on pancreatic beta-cells, suggesting they have a role in glycaemic control. Vitamin D analogues inhibit inflammatory cytokines involved in destruction of Beta-cells. This study aimed to assess the relationship between Vitamin D and glycaemic control, as measured by HbA1C, in a Type 1 (T1) diabetic paediatric population. HbA1C value...

Maintaining glycaemic control within recommended levels is crucial to minimise vascular complications associated with type 1 diabetes (T1D). Vitamin D is recognised as a vascular growth-factor. Detection of its receptors on pancreatic β-cells suggests it may have a role in glycaemic control. This study aimed to assess determinants of HbA1C including the potential influence of vitamin D status in a T1 diabetic paediatric population.Methods: Patients ...

Metabolic syndrome and insulin resistance persist 5 years after remission of Cushing’s syndrome (CS). Adiponectin and visfatin are two adipokines highly expressed in adipose tissue. Adiponectin is reduced in obesity and insulin-resistant states; visfatin has been shown in some studies to be reduced in obesity. The aim was to evaluate visfatin and adiponectin levels, body composition, insulin resistance and prevalence of metabolic syndrome in a cohort of women with long-te...

Introduction: Subclinical hypothyroidism (SCH) is recognised as an increased risk for cardiovascular disease (CVD). Low number of circulating endothelial progenitor cells (EPC), defined as mononuclear cells, expressing endothelial (vascular endothelial growth factor receptor, VEGFR-2) and stem cell (CD-34, CD-133) markers is associated with CVD. Our aim was to identify whether reduced EPC number might contribute to increased CV risk in subclinical and overt hypothyroidism (Hy)...

Introduction: Silent corticotroph tumours (SCT) are a pituitary tumours (PT) subtype of corticotroph lineage that do not clinically express Cushing disease. Inmunohistochemical (IHC) studies reveal no differences between SCT and functioning corticotroph tumours with Cushing Syndrome (FCT). However, the silencing mechanisms of this type of tumours are not fully understood.Aim: In an important series of SCT, to sequence the POMC gene and quantify ...

Introduction: Pregnancy in hypopituitary women is a rare and poorly studied clinical condition. Management difficulties and obstetrical complications have been associated with this condition.Objectives: To define the characteristics, follow-up and perinatal outcomes in hypopituitary pregnant women attended at our centre.Methods: The clinical data of the hypopituitary pregnant women (deficiency of two or more pituitary hormones), an...

Introduction: Type 1 Diabetes Mellitus (T1DM) causes autoimmune destruction of insulin producing b-cells, affecting approximately 8.4 million individuals worldwide. Autologous stem cell derived b cell (sc-b cell) transplantation is a promising treatment, however receipient immunological responses remain a challenge. This pilot study utilised mass cytometry (CyTOF) to assess immune responses in co-cultures of peripheral blood mononuclear cells (PBMC) with autol...