Endocrine Abstracts

To better understand the molecular and cellular nature of paediatric combined pituitary hormone deficiency diseases, our laboratory has recently generated a novel mouse model of the severe paediatric diseases caused by mutations in the LHX3 transcription factor gene. Through gene targeting, we have produced an Lhx3 W227Ter mouse modeling the LHX3 W224Ter (loss of carboxyl terminus) human disease. Patients with the W224Ter mutation are of short stature and ...

Introduction: Bronchial carcinoids (BCs), originating from endocrine cells dispersed in the respiratory epithelium, can be divided into typical (TBC) and atypical (ABC). TBC are less aggressive, smaller, and much less likely to metastasize, while ABC are more aggressive and metastasize. mTOR has a central role in regulating cell growth, metabolism, and apoptosis. A differential mTOR activation in BCs has been previously demonstrated, suggesting that mTOR pathway might play a p...

Introduction: BC patients have a high prevalence of anti-TPO-autoantibodies (TPOAb), which seem to be protective in BC patients. We hypothesized the presence of T-lymphocytes citotoxicity against a common antigen between thyroid and BC cells.Aim: To evaluate the possible expression of TPO gene in BC.Materials: Frozen tissue specimens: 8 BC, 5 peri-tumoral breast tissues (PT), 3 pancreatic adenocarcinoma (P), 2 kidney cancers (K) an...

Prevalence of obesity in children and adolescents is reaching epidemic proportions. It is followed by the increase in incidence of type 2 diabetes (DM2) and dyslipidemia, and both disorders are risk factors of cardiovascular complications.Aim: The aim was to define the prevalence of impaired glucose tolerance (IGT), DM2, hypercholesterolemia and hypertriglyceridemia in overweight children and adolescents in Croatia.Subjects and met...

Introduction: Acromegaly, a rare disorder resulting of tumor GH excess, is frequently associated with prognathism and facial dysmorphia. Characteristics and mechanisms responsible for the malocclusion and the craniofacial changes in acromegalic patients (ACR) are not clarified.Aims: To evaluate the craniofacial changes in an acromegalic group.Methods: We observed 59 individuals, 33 with ACR and 26 controls with nonfunctioning pitui...

Purpose: To know the relationship between gsp mutations and clinico-pathological features in GH producing pituitary adenomas.Subjects and methods: Somatotropinomas resected from 43 acromegalic patients, 18 males and 25 females, were examined for gsp mutation analysis. The mutation was detected in 25 of 43 (58.1%) tumours with alternations of Arg to Cys in codon 201 (68%), Arg to Ser in codon 201 (8%), Gln to Leu in codon 227 (20%) and Gln to Arg in codon...

An atypical form of resistance to thyroid hormone (RTH) leads to retarded growth and bone age in humans. Aberrant thyroid hormone levels (high T4, low T3, elevated rT3 and high/ normal TSH) indicate a defect in deiodinase-dependent thyroid hormone metabolism. Findings of reduced concentrations of plasma selenoproteins (SePP, GPx3) suggested a generalized defect of selenoprotein biosynthesis and led to the identification of mutations in the SECISBP2 gene. SECISBP2 is thought to...

Introduction: Trisomy 21 or Down Syndrome (DS) patients have a predisposition for Congenital Hypothyroidism which can aggravate their mental status.Hypothesis: The presence of three copy of Dyrk1a gene, localized in chromosome 21 in Humans, is responsible for a thyroidal dysgenesis.Our aim is to understand the molecular mechanisms underlying this condition.Methods: The transgenic Dyrk1a (TgDyrk1a) mouse, our ...

Chernobyl accident was followed by numerous publications overestimating its medical consequences, where spontaneous diseases have been without sufficient reasons classified as radiogenic. Among medical consequences of the accident, cause-effect relationship between ingestion of radioiodine and thyroid cancer in patients exposed at a young age is regarded to be proven. Significant incidence increase of pediatric thyroid cancer started 4 years after the accident, coinciding with...

As days become shorter susceptible people typically develop a cluster of symptoms associated with seasonal affective disorder (SAD): decreased energy levels, difficulty waking up, increased sleeping, weight gain, social withdrawal, difficulty concentrating and depressed mood. These symptoms usually remit in the spring with the increase in photoperiod. There is also evidence for seasonality (i.e. less severe changes in mood than observed in SAD) in the general population. SAD i...