Endocrine Abstracts

Abstract learning objective: Resistance to thyroid hormone is a rare condition caused by tissue refractiveness to the effects of circulating thyroid and may be misdiagnosed as hyperthyroidism. This syndrome is characterized by elevated circulating thyroid hormones, and unsuppressed TSH levels. Although most patients are euthyroid, rarely they may present with clinical hyperthyroidism, if the Pituitary gland is more insensitive than other tissues to thyroid hormones.<p clas...

Introduction: Parathyroid adenoma is the commonest cause of primary hyperparathyroidism, but 10% of these adenomas can be ectopic, leading to persistent and recurrent hypercalcaemia.Case: We present a case of 82 years old man was admitted in June 2011 with increasesd confusion, slurred speech, poor balance (ataxia). He had no features of sepsis and no other focal neurology. His past medical history included constipation, dry eyes. He was on Aspirin, hypr...

Membrane proteins of the endoplasmic reticulum (ER) are involved in a wide array of essential cellular functions. Identification of the topology of membrane proteins can provide important insight into their mechanisms of action and biological roles. This is particularly important for membrane enzymes, since their topology determines the subcellular site where a biochemical reaction takes place and the dependence on luminal or cytosolic substrates and co-factor pools. The metho...

Introduction: Cushing’s syndrome describes symptoms associated with prolonged exposure to inappropriately high levels of cortisol. It may be increased as a result of high ACTH production in the pituitary gland or from tumours outside pituitary–adrenal system.Case report: Patient 34 years old was hospitalised with complaints of muscle weakness, shooting-pain in thoracic, lumbar spine, decreased height, amenorrhea, arterial hypertension and chang...

Introduction: Prevalence of CS without specific signs is thought to be high, which might be an indication for its general screening. However, conclusive data about its diagnostics is absent.Design: 189 overweight patients were studied. Nobody had clinical evidence of hypercortisolism. Diagnostic of CS was 1-mg overnight dexamethasone suppression test (1-mg DST; cut off 50 nmol/l) as a screening; midnight plasma cortisol (MPC) (<207 nmol/l) and 24-h u...

Introduction: Prevalence of so-called diabetes prone to ketosis (DPK), has been increasing. The necessity of lifelong insulinotherapy is determined by Aβ classification of DPK.Design: Seven patients with atypical course of T2DM were studied. All patients had gradual development of hyperglycemia, obesity 1–2 stages, and acetonuria. Noone had acute weight loss. Stage 3 had positive GAD-AB, stage 4 – negative. Initially all patients were trea...

Introduction: In 7–20% of cases, Cushing’s disease is due to ACTH-producing macroadenoma. Aim of the study was to present our observations concerning etiologic, clinical, and therapeutic diversity of Cushing’s disease in patients with macrocorticotropinomas.Material and methods: Retrospective analysis of medical records of nine patients (5F; 4M) hospitalized in 2002–2015.Results: Four of the patients (2F; 2M) we...

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...

Graves’ disease is one of the multiple autoimmune diseases that have been reported in HIV-infected patients. With the upsurge of highly active anti-retroviral therapy (HAART) the incidence of autoimmune diseases in HIV-infected patients is increasing, especially after immune reconstitution. We present a male, 51-year-old, who started complaining with anxiety, sudoresis and palpitations. The laboratory workout revealed hyperthyroidism: TSH <0.02 μU/ml (0.46–4...

Background: Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited tumour syndrome with an important phenotypic variability. Genetic testing for VHL is simple and accurate.Objective: In this study, we investigated the relationships between genotype and phenotype in a series of patients with different VHL gene mutations.Method: This was a retrospective analysis of the clinical and molecular characteristics of 15 VHL pati...