Endocrine Abstracts

Introduction: Bardet-Biedl Syndrome (BBS) is an autosomal recessive disease and one of the most common causes of syndromic obesity. An excessive weight usually appears at an early age and affects almost 90% of patients. Mutations in BBS genes have been found to disrupt the function of the cilia, leading to disturbances of transduction satiety and hunger signals in hypothalamus and increased adipogenesis in the fat tissue.Methods: We present a case series...

Introduction: The diagnosis of thyroid orbitopathy is based on clinical symptoms and typical changes in laboratory tests confirming thyroid disease. In approximately 5% it is Hashimoto’s thyroiditis. Typical treatment is primarily steroids administered intravenously. But one disease does not exempts the other, and the drugs can not read. Therefore, we would like to present the history of our patient.Case report: 55 year-old man was admitted to the E...

Surgery is the only effective therapy for insulinoma patients, therefore there is a necessity to develop diagnostic strategies in cases of unknown tumour location, possibly through the use of new biomarkers. 99mTc labelled glucagon-like peptide 1 analogue (99mTc-GLP1) scintigraphy has been developed in our centre as an imaging technique of insulinoma. Labelled GLP1 analogue might also be applied in diagnosis of various forms of nesidioblastosis allowing t...

Fibroblast growth factor 1 gene (FGF1) is located within the blood pressure quantitative trait locus on human chromosome 5 and encodes a multifunctional regulator of cardiovascular function and structure. To dissect associations between blood pressure and this positional candidate gene 51 FGF1 single nucleotide polymorphisms identified either in sequencing or/and public databases were genotyped in 629 individuals from 207 white hypertensive families. Linkage disequilibrium map...

Introduction: The mixed tumor which secretes an excess of both GH and TSH causing acromegaly and hyperthyroidism is rare. The main problem is the late diagnosis, especially in men, even 10 years after the occurrence of the first symptoms.Case report: A 53-year-old men, was admitted to the our department, with complaints of excessive sweating and enlargement of the hands. His medical history included arterial hypertension. Past medical history revealed th...

Introduction: In the testicular adrenal rest tumor (TART) syndrome, doctors think before all to preserve fertility and oncological risk. Meanwhile, for the patient are relevant primarily those disorders that hinder him daily functioning and affect the quality of life. Because of it, we would like to introduce our patient with cognitive impairment.Case report: A 20-year-old male, working in the factory, came to an endocrinologist at the request of his mot...

A 25-year-old lady with poorly controlled type I diabetes presented acutely with vomiting, peripheral oedema and abdominal distention.She was diagnosed with type I diabetes at the age of 12 and her glycaemic control has always been suboptimal predominantly due to poor compliance with the treatment. She had had numerous admissions with diabetic ketoacidosis in the past.On examination a tender hepatomegaly was noted. The investigatio...

This lady with a background of schizophrenia and depression, on long term lithium therapy, initially presented in 2002, at the age of 53, with acute renal failure and symptoms of lithium toxicity secondary to sepsis. Lithium level measured at the time was 2.5 mEq/l and her creatinine 314 μmol/l. She was normocalcaemic on admission. The patient was hospitalized on ICU and the treatment included ventilation, haemofiltration and inotropic support.On 10...

Aim: The aim of the study was to evaluate the birth weight of children born to women with AITD compared to with those born to women without AITD.Material and methods: The study included 596 pregnant women and their children in 2007–2015. The patients were divided into two groups. The first (group A) consisted of 191 pregnant women with chronic autoimmune thyroiditis and their children, while the second (group B) consisted of 405 pregnant women witho...

Background: Type 3 neuroendocrine tumors of the stomach (type 3 NETV) are very rare subtypes of NETV with poor prognosis, not fully understood biology and not well investigated diagnostic and therapeutic procedures. The aim of the study was to analyze tumor biology and the outcome of differentiated treatment in patients with type 3 neuroendocrine tumors of the stomach.Methods: A prospective 10 years follow up of five patients with type 3 NETV treated in ...