Endocrine Abstracts

Introduction: XX male syndrome is a disorder of sex development associated with a 46, XX karyotype and is characterized by such features as: small testes, hypergonadotropic hypogonadism, male external genitalia, gynecomastia and azoospermia. The estimated prevalence is 1/20.000 males. Gender role and gender identity are reported as male. Identification and subsequent treatment is necessary to avoid the manifestations of testosterone deficiency.Clinical C...

Visceral adipose tissue (VAT) metabolic fingerprints differ according to the individual’s BMI and glycemic status. GLP-1 and Glucagon are two hormones that participate in energy homeostasis and glycemic control. Dual GLP-1/Glucagon agonists are a drug class under development for obesity and diabetes treatment. Although the pancreas and the liver are considered major GLP-1 and glucagon targets, these hormones act in other tissues, which could contribute for its effects on ...

Infertility is a growing concern in Western countries. Several factors, including lifestyle habits and increased prevalence of chronic disorders associated with hormonal alterations, increased chronic inflammation and systemic oxidative stress (such as obesity and diabetes mellitus), are contributing to the reduction of reproductive potential among males in modern societies. Evidence suggests these factors negatively impact human sperm quality resulting in a combination of alt...

Introduction: Recent advance of genetic testing has contributed to the diagnosis of hereditary pheochromocytoma and paraganglioma (PPGL). Germline mutations in MYC associated factor X(MAX) are responsible for 1.1% of these PPGL; the median age at onset is 33 years and no reliable penetrance estimation is available for MAX-carriers. The authors present the case of a synchronous bilateral pheochromocytoma that prompted the discovery of a proband of MAX mutation and three other r...

Introduction: In chronic diseases a good psychological and behavioral adaptation is essential. Concerning diabetes the Insulin Delivery System (IDS) adopted tend to be an important factor of adaptation, global satisfaction and, above all, quality of life (QoL).Objectives: To analyze the QoL and IDS satisfaction and its relationship with psychopathological symptomatology in patients on continuous subcutaneous insulin infusion (CSII) therapy.<p class="...

Idiopathic congenital hypogonadotropic hypogonadism (CHH) is a rare reproductive disorder that is primarily caused by a gonadotrophin-realising hormone (GnRH) deficiency. When CHH is associated with hyposmia or anosmia is designated by Kallmann Syndrome (KS). This syndrome is a genetic disorder with significant genetic heterogeneity that may present as a sporadic or familial case, following autosomal dominant, autosomal recessive, or X – linked recessive modes of inherita...

Introduction: Hypoglycemia is a major limiting factor in intensive glucose control in diabetes mellitus. Its incidence has been increasing with the demand for intensive therapy for the prevention of the diabetic chronic complications. There are few studies in our country regarding the evaluation of hypoglycemia in the emergency room (ER).Objective: To characterize severe hypoglycemia episodes and patient features in individuals admitted to the ER.<p ...

Introduction: Severe hypoglycemia is defined as an episode that requires the assistance of another person in order to correct it. Most of the costs associated with hypoglycemia in diabetes mellitus patients are the result of severe episodes, when treated by health care professionals. In our country there are few studies regarding the epidemiology of episodes of hypoglycemia evaluated in the pre-hospital care setting.Methods: We retrieved all episodes of ...

Background: Skeletal changes including demineralization have been reported in WD. The exact mechanism originating these changes isn’t completely understood but some authors have proposed a link to vitamin D (VitD) metabolism.Aim: To investigate the prevalence of demineralization in a cohort of WD patients and correlate it with VitD status and severity of hepatic and neurological involvement.Methods: Thirty-five patients (17 ma...

Pheocromocytoma is a catecholamine-secreting tumor that arises from chromaffin cells of the adrenal medulla. In general, they are unilateral and the treatment of choise is complete surgical resection. Surgery and other medical procedures such as chemotherapy or radiotherapy may result in massive catecholamine release that can be fatal. Some form of preoperative pharmacologic preparation is indicated for all patients to control blood pressure, arrhytmia and promote intravascula...