Endocrine Abstracts

Although primary aldosteronism (PA) is considered to be the most prevalent cause of secondary hypertension the underlying genetic mechanisms have been elucidated only for the rare familial forms of the disease. In an attempt to define novel genetic loci involved in the pathophysiology of PA a phenotype-driven mutagenesis screening after treatment with the alkylating agent N-ethyl-N-nitrosourea was established for the parameter aldosterone. The aldosterone values ...

According to recent studies, primary aldosteronism is considered to be responsible for almost 10% of all cases of arterial hypertension. The genetic background of this common disease, however, has been elucidated only for the rare familial types whereas in the large majority of sporadic cases it still remains unclear. In an attempt to define novel genetic mechanisms of hyperaldosteronism we utilized a random mutagenesis screen after treatment with the alkylating agent N...

Background: Congenital hypopituitarism (CH) is characterised by the deficiency of one or more pituitary hormones and can present alone or in association with complex disorders. Congenital hyperinsulinism (CHI) is a disorder of unregulated insulin secretion despite hypoglycaemia that can occur in isolation or as part of a syndrome. The underlying genetic etiology causing the complex phenotype of CH and CHI is unknown.Patient and Methods: A female baby bor...

Introduction: Polycystic ovary syndrome (PCOS) is the leading cause of female infertility and is associated with high degree of comorbidities including type 2 diabetes and endometrial cancer. Hyperandrogenemia is a hallmark of PCOS and contributes to endometrial-related dysfunctions, including implantation failure and miscarriage. Whether cellular heterogeneity contributes to the functioning of the endometrium is not previously studied. Therefore, the aim is to reveal cell-typ...

White adipose tissue (WAT) is a dynamic and heterogeneous organ composed of different cell types involved in a wide array of biological processes. We know that women with polycystic ovary syndrome (PCOS) suffer from insulin resistance and type 2 diabetes which is associated with pathological white adipose tissue (WAT) function and expansion characterized by hypertrophic adipocytes, altered production and release of lipids and adipokines, and chronic low-grade tissue inflammati...

Background: Pheochromocytomas are rare tumors, with prevalence less than 0.2% of hypertensive patients, in general population being unknown. With increasing access to imaging and hormonal workup, more pheochromocytomas are diagnosed. This may have changed the occurrence of the classic presentation with hypertension and the classic triad.Methods: We present 3 cases of pheochromocytoma diagnosed in our departments over the last 2 years, with 3 different ph...

Objective: Self-reported volume of patients and specific interventions is a specific network criterion that needs to be fulfilled by reference centres that are eligible for inclusion within Endo-ERN. The aim of the present study is to evaluate how self-reported volume data in the original applications were obtained, which data are retrievable, and which set is best suitable to use for future centre evaluations. This overview is provided for two Main Thematic Groups (MTGs) of E...

The parallel increase in the amount of environmental contaminants and in the prevalence of some human diseases has led to a growing interest in understanding how these compounds, so-called endocrine disruptors, may affect human health. In this scenario, the concept that obesity is the result of the interplay of genetic and lifestyle factors has been changing due to the growing evidence that environmental contaminants might alter endocrine function.Organo...

Background and Aims: The gut microbiome has been shown to differ between healthy individuals and those with diabetes and even in women with gestational diabetes mellitus (GDM). This raises the question of its role in postprandial glycemic response (PPGR). We aimed to evaluate the impact of microbiome features in PPGR in women with GDM and healthy pregnant women.Methods: We obtained stool samples for 96 pregnant women (65 GDM, 31 control), previously recr...

Background: According to the Endocrine Society’s guidelines, the screening and diagnosis of Cushing’s syndrome (CS) are based on the results of the overnight dexamethasone suppression test (DST), midnight salivary cortisol and 24-hour urinary free cortisol (UFC) measurements. These 3 tests reflect cortisol levels at the time of sampling without providing retrospective information. Hair cortisol concentration is a non-invasive way to measure cortisol exposure over lon...