Endocrine Abstracts

Pericentromeric inversion of the heterochromatic region of chromosome 9 has been reported in almost 4% of the cases of male infertility.Objective: Determining the karyotype from an infertile couple scheduled to perform IVF.Materials and methods: Slides with metaphasic chromosomes were GTG-banded according to standard protocol for cytogenetic analysis (karyotype). FISH analysis – inverted DAPI (4′-6-diamidino-2-phenylindo...

Introduction: Kisspeptins and their cognate receptor GPR-54 (Kiss-1) were found to be regulators of the hypothalamo-pituitary–gonadal axis. It is under debate if the onset of central precocious puberty (CPP) could be triggered by early increase of kisspeptin. We aimed to assess serum kisspeptin levels in girls in order to evaluate its potential as a reliable biochemical marker for differential diagnosis of CPP.Materials and methods: The girls enroll...

Introduction: Carney complex is a rare autosomal dominant genetic disorder which develops secondary to mutation in the PRKAR1A gene located in the 17q22-24 region. It is commonly characterised by the association between spotty skin pigmentation, cardiac myxoma and secretory endocrine tumors.Case presentation: A 15.8-year-old boy known with PRKAR1A mutation diagnosed based on his personal history – cutaneous papiloma of the neck resected at the age o...

Background: Vitamin D deficiency – a common condition in infants without supplementation – leads to a variety of health impairments.Objectives: To assess 25-OH-vitamin D (VD) status in infants with prolonged hospitalisation, without direct exposure to sunlight.Materials and methods: Twenty-two infants (mean age 6 years 3 months), admitted into Recuperation Department of a Children Hospital for nutritional rehabilitation, ...

Background: Low-serum concentrations of 25(OH)-vitamin D are associated with insulin resistance in adults. Recent in vitro studies have suggested that vitamin D may play a role in the regulation of adiponectin, leptin and resistin; since all these adipokines are related to insulin sensitivity modulation, they might represent a link between vitamin D status and insulin resistance.Aim: To identify possible correlations between 25(OH)-vitamin D ser...

Introduction: Matrix metalloproteinase-9 (MMP-9) is a zinc dependent proteolytic enzyme used by cells for degradation of the extracellular matrix during invasion and migration. There are only a few reports regarding the role played by MMP-9 in papillary thyroid carcinoma (PTC).Aim: To evaluate the association between MMP-9 secretion, reflected by preoperative serum levels and the histopathological features of thyroid tumors.Materia...

Background: Obesity is associated with adipocyte dysfunction, characterized by an impaired secretion of adipokines, which leads to a systemic inflammatory status.Aim: To characterize adipokines’ profile in a group of obese children and adolescents.Method: A case–control study comparing 102 obese children (BMI ≥95th percentile; aged 10–18 years) to a group of 43 healthy controls matched for age and pubertal stat...

Introduction: RET mutation is a well-known pathogenic event in medullary thyroid cancer. However, less than 25% of MTC cases present a germline mutation. First grade relatives of the patients with germline RET mutations may undergo genetic counselling and prophylactic appropriate therapeutic intervention.Objective: The aim of the study was to evaluate the most frequent pathogenic RET exon 11 mutations and SNP in medullary thyroid cancer (MTC).<p clas...

Male infertility arises as a global public health in the context of the dramatic decrease in birth rates, within a complex picture of hormonal, genetic and epigenetic factors. However, the underlying causes of male infertility remain unknown in many cases. Our study included samples (n = 82, median: 34 years, range 20–55 years) obtained from men investigating couple infertility and from a normal control group (n = 11, median: 29 years, range 21–55 y...