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...

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...

Background: Transphenoidal surgery is still the best initial therapy for Cushing’s disease (CD), with a high probability of cure and few risks or complications. However, pharmacotherapy has a role as primary or adjunctive therapy: when surgery is delayed, in case of postoperative persistence or recurrence of hypercortisolism, or while waiting for radiotherapy effectiveness. Ketoconazole, a steroidogenesis inhibitor, is nowadays the main drug used to CD control by reducing...

Background: Congenital hypogonadotropic hypogonadism (CHH), a clinically and genetic heterogenous sydrome, is caused by > 40 known loci whose mutations share the ability to cause defects in the ontogeny of the GnRH neuron network leading to absent/incomplete puberty and infertility. Cornelia de Lange Syndrome (CdLS) is similarly heterogenous disorder (distinctive facies, psychomotor delay, growth retardation and upper limb malformation) caused by mutations in 7 different g...

Context: Congenital hypogonadotropic hypogonadism (CHH) and CHARGE syndrome are clinically and genetically overlapping syndromes, with mutations in the CHD7 gene presenting in both disorders. However systematic evaluation of CHARGE features in CHD7-positive CHH patients is seldom performed.Objective: This study aims to systematically evaluate CHARGE features in CHD7-positive patients and explore the phenotype-genotype correlation.<p...