Endocrine Abstracts

Pituitary stem cells have been characterized in the postnatal pituitary. We now know they are organized in a niche and co-express specific markers such as Sox2, Sox9 or Gfra2. Although many studies by our group and others have been dedicated to its characterization in situ it is under discussion their role in the maintenance and turnover of the pituitary in physiological conditions or physiological pituitary challenges. It’s not known if the stem cells are requir...

Introduction: Follicular tumours of the thyroid gland include benign follicular adenomas, follicular carcinomas and the follicular variant of papillary carcinoma. Although, molecular markers are a promising area of research to differentiate thyroid neoplasms, there is ample room for improvement in the research and clinical applications in this field. Furthermore, the final diagnosis requires thyroid lobectomy. The present study examined whether a differential protein expressio...

Introduction: MicroRNAs (miRNAs) are short non-coding RNAs that regulate translation or degradation of target mRNAs. Therefore, miRNAs control gene expression in many biological processes, including proliferation, apoptosis, and differentiation. Deregulation of miRNAs expression is an important contributor to tumour development and progression. Even though several genetic and epigenetic lesions have been identified in human thyroid cancer, particularly in the papillary histoty...

The 46 XX male syndrome (de la Chapelle syndrome or 46,XX testicular disorder of sex development -46,XX testicular DSD-) is a rare phenotype associated with disorder of the sex chromosomes. XX males exist in different clinical categories with ambiguous genitalia or partially to fully mature male genitalia, in combination with complete or incomplete masculinization.Clinical report: We describe the clinical, molecular, and cytogenetic findings of a 26-year...

Aim: Bariatric surgery (BS) modifies body composition. The aim of the study was to establish the first step toward the introduction of the ultrasound (US) and bioelectrical impedance analysis (BIA) in the evaluation of body composition before and after BS. In addition, as obesity was shown to be related to global cognitive decline, we aim to determine possible changes in cognitive test before and after BS.Material and Methods: a prospective pilot study o...

Introduction: Urine free cortisol measurements are routinely performed to evaluate hypercortisolism. Despite their analytical inaccuracy, immunoassay-based methods are frequently used. Advances in liquid chromatography high resolution mass spectrometry (LC-HRMS) facilitate the incorporation of powerful diagnostic tools into clinical laboratories with high analytical specificity that also allow simultaneous quantification of different metabolites and untargeted compound identif...

Introduction: Hydroxymethylglutaric aciduria is a rare metabolic disease that is caused by the deficiency of the enzyme 3-hydroxy-3-methylglutaryl-CoA lyase, which participates in the metabolism of leucine and in the formation of ketone bodies. The symptomatology usually occurs in the first two years of life and consists of nausea, vomiting, diarrhea, hypotoniaanddepressed level of consciousness. Metabolic acidosis occurs during crises as a result of the accumulation of metabo...

Introduction: Recently, PCSK9 inhibitors have been approved in our country for familial hypercholesterolemia and for patients with cardiovascular diseases. They are still scarce data in real life patients effects.Objective: Analyse the features of first patients treated with PCSK9 inhibitors in a specific unit of familial dyslipidemia and the effect on lipid profile and other clinical variables.Material and methods: Data from patie...

Background: Insulin Lispro 200 units/ml is a concentrated rapid-acting mealtime insulin (MTI) available as a prefilled, disposable pen (IL200) indicated for adults who require >20 units/day of prandial insulin. In comparison with Insulin Lispro 100 unit/ml prefilled pen, IL200 permits the delivery of an insulin dose in half the injection volume [1] and a lower glide force [2]. This study aims to understand physicians’ reasons to prescribe IL200, as well as characteriz...

Introduction: Glycogenosis is a group of hereditary diseases affecting the glycogen metabolism, due to mutations in enzymes involved in the transformation and synthesis of glucose (liver and muscle glycogenosis). Brain germ tumors are very infrequent. They are located mainly in pineal and sellar region. Central diabetes insipidus is the most frequent manifestation. Their prognosis and response to combined chemo/radiotherapy treatment are favorable.Case r...