Endocrine Abstracts

Introduction: Glucocorticoid resistance syndrome (GRS) is a rare familial or sporadic condition, caused by mutations in glucocorticoid receptor gene. It is characterised by generalised partial resistance of target tissues to cortisol action and compensatory elevation of ACTH with subsequent hypersecretion of cortisol, mineralocorticoids and androgens. Its clinical spectrum is broad and it may occur with high blood pressure (HBP) metabolic alcalosis, hypokalaemia and virilisati...

Introduction and Aim: Dopamine receptor D2 (DRD2) polymorphism (rs1800497) appears to be associated with increased susceptibility to the development of type 2 diabetes mellitus (T2DM). The dopamine transporter (DAT) determines dopamine signalling, responsible for the reuptake of its active form from the synapse. Polymorphism in the DAT gene (rs2836317) can increase dopamine reuptake in the synaptic cleft. However, its association with T2DM is still controversial.<p class="...

Introduction: Familial hypocalciuric hypercalcaemia (FHH) is a rare genetically heterogeneous disorder, with 3 variants described. An inactivating mutation in the calcium sensor receptor (CASR) gene causes the subtype 1, which represents 65% of the cases.It is charaterised by hypercalcaemia and hypocalciuria with normal or elevated PTH. FHH is generally assymptomatic and treatment is not needed. Differential diagnosis with primary hyperparathyroidism (PH...

Diabetes mellitus (DM) is a disease that results from impairment of insulin synthesis/secretion or signaling. The glycemia of type 1 DM (DM1) patients is controlled by insulin replacement therapy, which chronically results in insulin resistance. We have shown that alloxan-induced diabetic rats present hypothyroidism, and that T3 treatment reduced the inflammatory state and hepatic glucose production and increased insulin sensitivity, improving glycemia control. Considering tha...

Background: Macroprolactinemia is a condition where more of 60% of circulating PRL is made up of macroprolactin. It may be observed in both sexes (although women represent about 90% of published cases), and at all ages. As macroprolactin has low biological active and low bioavailibility, most patients are asymptomatic. The Endocrine Society guidelines recommend screening for macroprolactin only in asymptomatic hyperprolactinemic patients. However, some data from the literature...

IntroductionThe Indoleamine 2.3-dioxygenase (IDO) is an enzyme involved in tryptophan metabolism, encoded by the IDO1 gene in humans. In Caucasians, the rs9657182 polymorphism of IDO gene was found to be associated with neurobehavioral complications, especially depression. Several studies in Type 2 Diabetes Mellitus (T2DM) describe psychological factors as barriers to the successful implementation of a healthy eating plan. According to our knowledge ther...

Introduction: Obesity is a pathological condition characterized by a low-grade systemic inflammatory state that predisposes to the onset of some diseases, such as hypertension, diabetes, and hyperlipidemia. Also, obesity can impact bone metabolism, but its effects are controversial.Aims: This observational study aimed to evaluate and correlate the bone mass with the lipidic profile, adipocytokines, glucose metabolism, hepatic function and purine metaboli...

Abstract: Cushing’s syndrome (CS) during pregnancy is a rare condition with fewer an 200 cases reported in the literature, However, because CS results in increased fetal and maternal complications, its early diagnosis and treatment are critical. During pregnancy, 40-50% of cases are caused by adrenal adenomas, while Cushing’s disease (CD) accounts for only one third of the cases. We describe here 3 patients with CD who needed to be treated during pregnancy.<p cla...

Introduction: Clomiphene citrate (CC), a selective estrogen receptor modulator that increases LH and FSH secretion, improves hypogonadism and fertility outcomes. Moreover, there is limited evidence that it may also be helpful as add-on therapy to normalize IGF-1 levels in male acromegalic patients.Objective: To assess the effect impact of CC on serum IGF-1 and testosterone levels in male acromegalic patients not controlled by the combination of lanreotid...

Thyroid hormone plays an important role on carbohydrate and lipid metabolism. In hypothyroidism is observed reduction of glucose transporter-4 expression and insulin sensitivity and in hyperthyroid states the key enzymes of gluconeogenesis and glycogenolysis are induced, and both conditions lead to glucose intolerance. It has been reported an increased prevalence of thyroid dysfunction in obese and diabetic patients. Recently we have demonstrated a hypothyroid state in alloxan...