Endocrine Abstracts

Background: Systematic exploration for anterior pituitary deficiency in patients harboring pituitary microadenomas is not well defined. So far, little is known on the involvement of pituitary function in clinically non-functioning pituitary microadenomas (CNFPM).Objective: To evaluate the prevalence of anterior pituitary insufficiency, defined as at least one hormonal deficiency, in patients diagnosed of CNFPM.Patients and methods:...

Microdeletions or microduplications in the 22q11.2 region cause a variety of disorders, including DiGeorge syndrome (DGS; MIM 188400), velocardiofacial syndrome (VCFS; MIM 192430) and cat-eye syndrome (CES; MIM 115470). DGS and VCFS clinically overlap and are both caused by three million-base pair (Mb) deletions on the chromosome region 22q11.2, flanked by low copy number repeats (LCRs) labeled ‘A-D’. The most common deletion, present in 85% of individuals, extends f...

Background: Osteogenesis imperfecta (OI) is a few frequent disease with abnormal synthesis of type 1 collagen. That affects skeletal but also extra-skeletal tissues. Aortic root (AR) dilatation and valvular dysfunction have been described. Other studies, to estimate the size of the AR, index it by the body surface area (BSA), however, although these patients are shorter their internal organs have a relatively normal growth, so we could find overestimated AR values. Therefore, ...

Background: Acute intermittent porphyria (AIP) is an inherited autosomal dominant disorder characterized by hepatic deficiency of hydroxymethylbilane synthase (HMBS)/porphobilinogen deaminase (PBGD), the third enzyme of the heme synthesis pathway. Hyponatremia is one of the main presenting symptoms and it is thought to be related to an inadequate secretion of ADH (SIADH). Since AIP is an uncommon disease, there is little information about how AIP related hyponatremia responds ...

Undifferentiated thyroid carcinoma is a highly aggressive human cancer with poor prognosis. A strong association has been observed between undifferentiated thyroid carcinoma and TP53 mutations. Plitidepsin (AplidinTM) a novel anticancer compound from a sea tunicate, has been reported to induce apoptosis independently of TP53 status. We investigated the actions of plitidepsin in human thyroid cancer cells. initiallyexperiments using primary cultured cells from a d...

Growth hormone-releasing hormone (GHRH), apart from stimulating GH secretion in the pituitary, exerts many peripheral functions, including stimulation of cell proliferation and survival. In fact, GHRH and GHRH receptors (GHRH-Rs) are expressed in different cancer cell types, where they promote proliferation and survival. Conversely, GHRH antagonists exert antineoplastic activities in several tumors, including lung cancer, one of the leading causes of death by cancer worldwide....

Introduction: Hyponatremia is the most common electrolyte disorder and it affects approximately 5% of adults and 35% of hospitalized patients. Diagnostic and/or therapeutic challenge is given. It is defined by a serum sodium concentration of less than 136 mmol/l. Symptoms of hyponatremia range from mild and nonspecific to severe and life-threatening. Hyponatremia is classified as mild, moderate and severe and may be acute or chronic. Mortality and morbidity are significantly i...

Introduction: Although the first-line treatment of insulinoma remains to be surgical resection, medical therapy is necessary for non-localizable or non-resectable tumors, poor surgical candidates, or when surgery is declined. We present an interesting case of a patient with well-controlled insulinoma on diazoxide for 5 years who presented acutely with diabetic ketoacidosis (DKA).Case presentation: A 85-year-old female presented to the Emergency Departmen...

Introduction: Circulating insulin levels are widely used to provide diagnostic information for diabetes mellitus and hypoglycaemic syndromes. C-peptide concentration provides an accurate assessment of residual B-cell function and reliable information about insulin secretion in patients with diabetes. The aim of this study was to evaluate the performances and reliability of the Liaison® fully automated system for measurement of insulin and C-peptide concentratio...

Introduction: Accumulating evidence has shown that not only maternal health during pregnancy, but also the paternal metabolic status at the time of conception may have an impact on the subsequent health of the offspring. Cholestatic liver diseases are metabolic conditions characterised by increased circulating serum bile acid and lipid levels. In this study we hypothesised that paternal cholestasis alters disease susceptibility in the offspring.Methods: ...