Endocrine Abstracts

Chronic hypoparathyroidism affects ~2.5/10 000 individuals in the European Union and is classified as a rare disorder. There is limited knowledge of the natural history and epidemiology of this disease. Publications frequently represent a single center’s experience and information across the population of patients with hypoparathyroidism is lacking and needed. To fill the gap, a voluntary global hypoparathyroidism patient registry (PARADIGHM) was initiated by NPS Pharmace...

Methods: 157 patients (118 women and 39 men) aged from 30 to 73 years with radical treatment for Graves’ disease were included in this study. Patients were divided into two groups depending on a type of radical treatment: 76 patients have received radioiodine therapy, 81 persons received surgical treatment. Quality of life assessment was made by SF-36 questionnaire which includes eight scales: (physical functioning (PF), role physical functioning (RPF), pain (B), general ...

Materials and methods: 157 patients (118 women and 39 men) aged from 30 to 73 years with radical treatment for Graves’ disease were included in this study. The patients were divided into two groups depending: (76) included patients with low-normal level of TSH (0.4–2.0 mU/ml), the second group (81 patients) with upper-normal level of TSH 2.1–4.0 mU/ml. Quality of life was assessed with the help of the questionnaire Short-Form SF-36.Results...

Background: Secondary hyperparathyroidism (SHPT) is an adaptive process that develops in response to declining kidney function, impaired phosphate excretion, and failure to bioactivate vitamin D. The signal transduction via the calcium-sensing receptor (CaSR) is a key determinant of parathyroid gland hyperplasia.Aims: To examine the polymorphisms rs1801725 (p.Ala986Ser, G>T), rs1042636 (p.Arg990Gly, A>G), rs1801726 (p.Glu1021Gln, G>C) of ...

Background/Introduction: The primary metabolic defect in glycogen storage disease type I (GSDI) results in fasting hypoglycemia and typical secondary metabolic abnormalities (e.g. hypertriglyceridemia, hyperlactatemia, hyperuricemia). The aim of this study was to broadly assess further perturbations of the metabolic network in GSDI by using untargeted plasma metabolomics.Methods: Plasma samples of 14 adult GSDI patients (11 GSDIa, 3 GSDIb. Mean age 26.4&...

Background: Thyroid storm is an extreme disorder that occurs in case of severe thyrotoxicosis. This is a life-threatening condition with mortality rates up to 10–20%. A typical dose of iodinated contrast media (ICM) contains approximately 13.500 µg of free iodide and 15 to 60 g of bound iodine, which represents an acute iodide load of 90 to several hundred thousand times the recommended daily intake of 150 µg. As a result of sudden exposure to high iodide loads...

Introduction: The actual prevalence of early carbohydrate metabolic disorders is associated with persistent hyperglycemia and can only be detected by targeted screening.Objective: We examined 316 people aged 51.21(46.7;62.35) years, without DM.Methods: We determined the 10-year risk of T2DM according to the Findrisc scale, anthropometric data, lipid profile, glycemia and HbA1c level, linear dimensions of preperitoneal and subcuteno...

Introduction: The actual prevalence of early carbohydrate metabolic disorders is associated with persistent hyperglycemia and can only be detected by targeted screening.Objective: We examined 316 people aged 51.21(46.7;62.35) years, without DM.Methods: We determined the 10-year risk of T2DM according to the Findrisc scale, anthropometric data, lipid profile, glycemia and HbA1c level, linear dimensions of preperitoneal and subcuteno...

Introduction: Condition of injected skin and subcutaneous tissue is assessed by visual inspection and palpation and it has only 10–15% diagnostic value. The standard ultrasonography comparison of symmetrical skin areas is not valuable as they are usually used for injections.Objective: We examined 143 patients, aged 43.3 ± 3.9 years, with DM duration of 6.5 ± 2.8 years, receiving basal-bolus insulin therapy.Methods: ...

Mutations in the mitochondrial succinate dehydrogenase (SDH) subunits A, B, C, and D have been shown to hamper oxidative phosphorylation and predispose to pheochromocytomas (PHEOs) and paragangliomas (PGLs). These tumors are characterized by a glycolytic and pseudohypoxic phenotype, which is also seen in most PHEOs/PGLs occurring as part of von Hippel–Lindau (VHL) syndrome, due to VHL gene mutations. The rate of extra-adrenal tumor origin and malignancy however is particu...