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: 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...

Introduction: Beckwith-Wiedemann Syndrome (BWS), a genetic imprinting disorder linked to 11p15, showcases overgrowth traits, including macrosomia, macroglossia, and abdominal wall defects. Characterized by specific genotype-phenotype correlations and recognized as a cancer predisposition syndrome (nephroblastoma, hepatoblastoma, neuroblastoma and adrenocortical carcinoma), our four case reports provide insights into varied clinical presentations.Case rep...

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...