Endocrine Abstracts

Recently, we have reported a few cases of acute liver damage in patients with Graves’ ophthalmopathy (GO), during or following high dose intravenous (iv) glucocorticoid (GC) pulse therapy. In the present study we analyzed retrospectively liver enzymes (LE) in 294 consecutive patients with GO who underwent ivGC. LE were measured before or during ivGC, and in 91 patients also within 6 months after ivGC. An asymptomatic increase in LE (AST peak: 67–88 U/L, ALT peak: 75&...

Introduction: Cushing disease (CD) results from excessive exposure to glucocorticoids caused by an adrenocorticotropic hormone–secreting pituitary tumor. Inadequately treated CD is associated with significant morbidity and elevated mortality.Objetive: The study purpose was to describe the long term treatment outcomes for CD patients in our hospital.Methods: Retrospective analysis of the records of 36 patients with Cushing dise...

Empty sella is characterized by the radiological appearance of an enlarged or deformed sella turcica which is completely or partially filled with cerebrospinal fluid resulting in a displacement of the normal pituitary gland. Primary empty sella (PES) refers to the empty sella appearance of unknown etiology, diagnosed after excluding a history of previous pituitary pathology. The prevalence of hypopituitarism in empty sella syndrome varies between 2 and 32% in different publish...

Objectives: The aim was to evaluate the iodine nutritional status in pregnant women residing in Veneto region and its associations with diet, iodine supplements and social status (nationality and education).Methods: 292 consecutive pregnant women at the third trimester of pregnancy were enrolled (≥18 years old, and resident in Veneto). Exclusion criteria were a personal history of thyroid disease and the refusal of the informed consent. Every woman...

Aim: IFNα is a key regulator of the initial dialogue between pancreatic β-cells and the immune system in type 1 diabetes (T1D). IFNα induces endoplasmic reticulum (ER) stress, insulitis and a massive HLA-ABC overexpression in human β-cells, three histological hallmarks of T1D. Against this background we investigated the global role of IFNα on iPSC-derived islet-like cells, used here to mimic islet cells in the early neonatal period when autoimmunity ag...

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...

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...

Introduction: Follicular Thyroid Carcinomas (FTCs) and Follicular Variant Papillary Thyroid Carcinomas (FVPTCs) may present absence of suspicious ultrasonography features more frequently than classic papillary carcinomas. Thus, some cases may be identified with the pattern of ‘low suspicion’ rather than intermediate or high suspicion defined in the American Thyroid Association (ATA) guidelines of 2015. These guidelines establish a size cutoff of 1.5 cm to recommend f...

Precedents: Thirty-nine year old Woman. Classic phenylketonuria diagnosed for neonatal screening in Germany. Good adherence to the diet from the infancy, with good metabolic control. Not response to test with BH4.Pregnancy in 2007 with good controls of phenylalanine (Phe). Son with congenital cardiopathy.Evolution: In 2013 she planed new pregnancy, departing from very good controls (<4 mg/dl) and ingestion of 22–24 Phe&#14...