Endocrine Abstracts

Ghrelin is stored alongside glucagon in developing islet, although in a discrete cellular compartment, the pancreatic ε-cell. However, recent observations have shown a subpopulation of ghrelin/glucagon-double-positive cells in developing pancreas. The aim of the present study was to examine the developmental patterns of ghrelin- and glucagon-immunoreactive (ir) cells expression and possible co-localization of these hormones during human pancreas development. For this purp...

Aldosterone is the main steroid hormone controlling sodium homeostasis in human. During the neonatal period, full term newborns and more specifically premature infants, are subjected to an impaired renal capacity to reabsorb sodium, responsible for sodium loss and failure to thrive which could be linked to a renal aldosterone unresponsiveness at birth. A clinical prospective study on 50 newborns and their mothers, revealed high aldosterone and renin levels in umbilical blood s...

Hydroxysteroid (17-β) dehydrogenase enzymes (HSD17Bs) have an important role in sex steroid hormone metabolism. They are known to catalyze reactions between highly active 17β-hydroxy steroids and less active 17-keto steroids. In addition to sex steroid metabolism, it is becoming evident that HSD17Bs have functions in other pathways as well, e.g. lipid and bile acid metabolism. HSD17B type 7 enzyme is known to catalyze in vitro the activation of estrone (E1) to...

Aristaless-related homeobox gene (ARX) mutation leads to several neurological disorders including X-linked lissencephaly with abnormal genitalia (XLAG), West syndrome and Partington syndrome, with XLAG being the most severe form. Although some of the brain pathology of XLAG has already been described, the crucial extra-brain symptoms are severe growth retardation, transient hyperglycemia and intractable diarrhea. Since ARX expresses in the islets of Langerhans du...

Though results of scientific studies are rather controversial, it is known that adults with growth hormone deficiency (GHD) and Turner syndrome (TS) experience disturbances in psychological well-being and quality of life. Results of our previous studies confirm that quality of life and emotional state are worse in adult patients with adult-onset, childhood-onset GHD and TS than in age- and sex-matched controls.Aim: The aim of the study was to compare qua...

Imbalanced maternal nutrition during pregnancy can cause fetal growth retardation, metabolic changes and alterations of the hypothalamic–pituitary–adrenal (HPA) system in the offspring. Here, we investigated the effects of maternal low and high protein diets during pregnancy in pigs on materno-fetal HPA regulation and expression of glucocorticoid receptor (GR), mineralocorticoid receptor (MR), 11β-hydroxysteroid dehydrogenase 1 and 2 (11β-HSD1 and 11β-...

Introduction: High total cholesterol (tChol), LDL and trygliceride (TAG) level is independent risk factor for cardiovascular disease. High prevalence of malignant atherogenic profile is alarming in type 2 diabetics (high triglyceride, low HDL). It is very often that dislipidemia is associated with diabetes and obesity, as well as hypertension.Aim: The aim of this study is to analyse lipid profile in patients with type 2 diabetes in Kragujevac depending o...

Androgens, by signaling through the androgen receptor (AR), mediate a wide range of male developmental processes. Complete androgen insensitivity syndrome (CAIS), a X-linked disorder caused by AR gene mutations, represents an in vivo model to study the role of androgens in sexual development. Here, we reported a case with CAIS at 20 weeks of gestational age harbouring a novel AR missense mutation (D767V), which was predicted to prevent androgen binding and...

Background: Data from several clinical studies have demonstrated the benefit of GH treatment in relation to bone mineral density and body composition in young adults who received GH treatment in childhood due to GHD1–3. There are recommendations to use a higher GH dose in the transition phase compared to the GH dose required during adulthood to mimic the endogenous GH secretion4,5.Methods: Data from NordiNet IOS have been analy...

Objective: It is known that mother’s stress during prenatal period of gestation provokes the firm long-lasting disturbances of fetal functional systems. The consequences of stress within early pregnance (SEP) are still researched poorly.Aim: The aim of study was to evaluate hormonal and behaviour features in females – offspring of rats with SEP.Material and methods: For SEP creation the Wistar rat females were transferred...

Mutations that inactivate one allele of the gene encoding the calcium sensing receptor (CaSR) cause autosomal dominant familial hypocalciuric hypercalcemia (FHH), whereas homozygous mutations cause neonatal severe hyperparathyroidism (SNHPT).Objective: We describe the identification and biochemical characterization of a novel CASR gene mutation that caused SNHPT and FHH in a consanguineous kindred.Design: The study design involved ...