Endocrine Abstracts

Background: Maturity onset diabetes of the young (MODY) has an estimated prevalence of 1–5% in the diabetic population, but misdiagnosis as type 1 or type 2 diabetes is common. It comprises a heterogeneous group of monogenic diseases characterized by primary dysfunction of β cell, young onset, autosomal dominant inheritance, without autoimmunity and without ketosis. Early diagnosis remains a challenge with important future implications, since it allows treatment opti...

The majority of adrenocortical tumors (ACT) are benign and hormonally non-functioning, in contrast to adrenocortical carcinomas (ACC), which are rare and usually very aggressive tumors. The differential diagnosis between these two entities is mainly based on unspecific and subjective criteria, contributing to the inaccuracy of diagnosis. Due to ACC molecular and biological heterogeneity, prognostic factors have a limited capacity to predict ACC clinical outcomes, leading to an...

Arterial hypertension usually results from the deregulation and hyperactivity of the renin angiotensin-aldosterone system. One of the available therapeutic approaches for its treatment is the use of mineralocorticoid receptor (MR) antagonists, thus blocking aldosterone action.The aim of this study was to characterize the effects of spironolactone and eplerenone, on the morphology of the adrenal gland of spontaneously hypertensive (SHR) and normotensive (...

Introduction: CHARGE syndrome is a rare autossomal dominant genetic disorder with an estimated birth incidence of 1:10000. It affects multiple organ systems and can have a variable phenotypic expression.Case report: 34-years-old man, referred to Endocrinology in the context of bilateral gynecomastia. He had an acute corneal hydrops which was treated by ophthalmology. Physical examination showed short stature (149 cm), obesity (BMI 31.5 kg/m2),...

Introduction: The majority of adrenocortical carcinomas (ACC) autonomously produce steroids. However, urinary steroid profile of patients with ACC revealed that these tumors secrete and release predominantly intermediate metabolites. This steroid secretion pattern could be attributed to the undifferentiated status of the tumor cells expressing an incomplete pattern of enzymes involved in the steroidogenic cascade.Aims: Our study aim was to analyze the ex...

Introduction: Type 2 diabetes is one of the most common health problems worldwide and its prevalence is rapidly increasing. Although environmental factors play a substantial role in the etiology, genetic susceptibility has been established as an important risk factor. Several recent genome-wide studies and linkage analysis testing have identified and confirmed various T2D susceptibility loci. However, as demonstrated by the results of the HapMap project and by other s...

Polycystic ovary syndrome (PCOS) is one of the most common endocrinopathies in women of reproductive age and, accounts for 80% of the causes of anovulatory infertility. Despite PCOS being often associated with obesity and insulin-resistance, these are not invariably present. As PCOS aetiology and underlying mechanisms remain unclear, clinical management is limited to target symptoms. Recent evidence suggested the potential of GLP-1 receptor agonists therapies in ameliorating P...

Adrenocortical carcinomas (ACC) are rare and usually very aggressive tumors with heterogeneous outcomes. The individual variability in tumor progression and patients’ survival is linked to ACC biology and molecular heterogeneity, reinforcing the need to identify markers with prognosis value, to allow an accurate clinical strategy. Currently, in the absence of specific molecular markers, ACC prognosis is mainly predicted by the European Network for the Study of Adrenal Tum...

Most of adrenocortical tumors (ACT) are benign and non-functioning tumors, in contrast to adrenocortical carcinomas (ACC), which are rare and usually very aggressive tumors with a poor prognosis. The pathological discrimination between adrenocortical adenomas (ACA) and ACC is mainly based on unspecific and subjective histological features, resulting in inaccurate diagnosis in several cases. Numerous studies have previously described the potential value of immunohistochemistry ...

Introduction: The diagnosis of Cushing’s syndrome is often challenging considering that none of the used laboratory tests has an ideal diagnostic accuracy. The complexity of the diagnosis increases in cyclic disorder, which is characterized by repeated episodes of cortisol excess followed by periods of normal cortisol secretion.Case report: A 32-year-old woman with history of arterial hypertension and obesity presented with weight gain, hirsutism, a...