Endocrine Abstracts

Dehydroepiandrosterone (DHEA) and its sulfate derivative (DHEA-S) are major adrenal secretory products in humans, but their biological function is not still fully explained. Some studies reported negative correlation of DHEA(S) with BMI, fat distribution, and correlations with insulin sensitivity or lipid spectra, but the results are often controversial. Our objective was to assess the correlations of DHEA and DHEA-S levels in Czech non-diabetic population with anthropometric,...

SHBG (sex hormone-binding globulin) is a transport protein specific for dihydrotestosterone, testosterone and estradiol. The missense mutation in exon 8 (GAC→AAC) causing the amino acid exchange D327N correlates accordingly to literature data with higher SHBG levels.We studied the possible association of this polymorphism with polycystic ovary syndrome (PCOS) and its influence on anthropometric and biochemical parameters in 247 PCOS patients in com...

The A-3826G gene polymorphism of the uncoupling protein 1 (UCP1) causes the lower expression of UCP1 in visceral fat and reduced energy expenditure. Peroxisome proliferator activated receptor gamma 2 (PPARG2) plays a role in the regulation of the adipocyte differentiation and energy balance. The Pro12Ala polymorphism is associated with better insulin sensitivity. We compare the genotypic distribution of these polymorphisms in PCOS and controls and study their possible associat...

IntroductionThe MTNR1B gene encodes a receptor for melatonin, a hormone that controls biorhythms. The gene is expressed primarily in the brain, but also in human pancreatic cells. Genetic studies suggest that variability in the MTNR1B gene is one of the factors sought to influence the pathophysiology of type 2 diabetes mellitus (T2DM). The single nucleotide polymorphism rs10830963 shows the strongest association. Our aim was to compare ...

ObjectivePrimary hyperparathyroidism (PHPT) is a common endocrine disorder affecting 2% of the population aged 55 years or older. Primary hyperparathyroidism is due to parathyroid adenoma in about 85% of cases, parathyroid hyperplasia in about 15% of cases, and parathyroid carcinoma in less than 1% of cases. Familial parathyroid disorders are responsible for 10% of the PHPT cases and include among other disorders caused by parafibromin malfunction. Paraf...

Introduction: Familial and hereditary forms of primary hyperparathyroidism (PHPT) represent a small minority of all patients with PHPT (5 – 10%). The surgical approach is different in such cases than in sporadic PHPT. Hereditary PHPT may be syndromic (multiple endocrine neoplasia: MEN – type 1, 2A or 4 and others) or nonsyndromic (familial isolated PHPT). The aim of the study was to identify and describe hereditary and familial forms of PHPT in patients referred to p...

Objectives: Fine needle aspiration biopsy (FNAB) together with ultrasonography is a necessary tool for diagnosis and follow up of thyroid nodules. Molecular testing is increasingly used mainly for indeterminate categories of the Bethesda System for Reporting Thyroid Cytopathology revised in 2017. Our aim was to introduce a routine molecular analysis of the main genetic causes of thyroid cancer.Methods: Since 2017 we have analyzed 1171 samples of patients...

Objectives: Molecular testing of fine-needle aspiration biopsy (FNAB) samples is increasingly used mainly for indeterminate categories of the Bethesda System for Reporting Thyroid Cytopathology. Our aim was to introduce a routine molecular analysis of the main genetic causes of thyroid cancer.Methods: In total, 1354 FNAB samples of thyroid nodules were analyzed. Testing procedures mainly in samples evaluated as Bethesda categories III and above were grad...

Background and aims: Neuroactive steroids and their metabolites play an important regulatory role in the nervous system affecting the neuronal plasticity, stress response, learning, and memory. The aim of the study was to compare the steroid metabolome in AD patients and controls.Materials and methods: The study comprised of 48 AD patients (30 women and 18 men; age 73.8±9.54 years) and 33 matched controls (22 women and 11 men; age 68.2±5.94 yea...

Introduction: Metabolic syndrome (MetS), the combination of obesity, glucose metabolism impairment, dyslipidemia and high blood pressure, is becoming a worldwide burden of morbidity and mortality. Both genetic and enviromental factors are involved in its pathogenesis, with heritability of each component of MetS 25–80%.Aim: We aim to contribute to dissection of the genetic architecture of MetS using PD (polydactylous) rats, which present a unique mi...