ESPE Abstracts

Introduction: Bone mineral density (BMD) is affected not only by genetic and enviromental causes, but various hormonal factors. It seems reasonable to seek for dependencies between BMD and paediatric endocrinopathies. The aim of the study was to assess the frequency of decreased BMD in children with several endocrinological disorders and evaluate the influence of selected auxological and hormonal parameters on their BMD.Materials...

Context: Differences in sex development (DSD) represent a broad spectrum of conditions that can present at different ages to various healthcare professionals with different backgrounds.Design: This is a retrospective, observational cohort that includes all DSD subjects referred to a multi-professional DSD team over a period of 41 years (from 1980 to 2021).Participants: A total of 6...

Background: Noonan syndrome (NS) is a rare genetic disease characterized by facial dysmorphism, short stature, heart defects, chest deformities, and variable developmental delay/learning disabilities. Almost 80% of patients have a mutation in the genes encoding components of the RAS/MAPK pathway. Puberty was described as delayed in NS patients, but few studies are focusing on this subject and genotype-phenotype correlations so far.<s...

Background: Noonan syndrome (NS) is a frequent autosomal dominant disorder characterized by facial dysmorphisms, heart defects, short stature and learning disabilities. It is caused by mutations in genes within the RAS/MAPK signaling pathway, thus called RASopathies. The RAS/MAPK pathway can also impact the signal transduction of hormones involved in body weight, carbohydrate, and lipid metabolism features scarcely studied only in animal models. This study aimed to describe me...

Background: In total of 48,XXYY Syndrome occurs in 1:20.000–1:50.000 male births. It used to be considered as a variant of Klinefelter syndrome, but now it is considered as a distinct clinical and genetic entity with increased risks for congenital malformations, additional medical problems and more complex psychological and neurodevelopmental involvement. 48,XXYY Syndrome results from the fertilization of a normal female oocyte (Xm), with an aneuploid sperm (XpYpYp) produ...

Background: Peptide hormones synthesized in gastrointestinal tract (GI) and adipose tissues, in addition to neuropeptides, regulate growth and body weight in children. The GI microflora (i.e. Candida albicans – CA and Helicobacter pylori – HP) is an antigenic source. Based on the molecular mimicry hypothesis, intestinal microbe-derived antigens may trigger the production of autoantibodies cross-reacting with regulatory peptides.<p class="abstext...

Introduction: Obesity is a multifactorial disease resulting from an interplay between genetics and the environment. Metabolic, nutritional, psychosocial, and lifestyle factors participate, promoting various degrees of overweight or obesity. Pediatric obesity increases after infancy and is higher in early adulthood, showing a heritability of up to 85%. Genetic variants associated with BMI in children can exert their effects by affecting eating behavior, as is t...

Introduction: The growth process in children depends on GH/IGF-1. Ghrelin is stimulator of GH synthesis. Ghrelin also stimulates the orexigenic center peptides responsible for appetite. It is synthesized in the stomach, thus its secretion may be alter by gastrointestinal tract deseases. Recently, high titers of antibodies against some neuropeptides (including anti-ghrelin) have been found in indyviduals with certain microflora components, e.g. Helicobacter pyl...

Introduction: Complete Androgen Insensitivity Syndrome (CAIS) is characterized by a complete external genitalia appearance and testicular development in 46,XY individuals harboring pathogenic allelic variants in the AR gene. Due to growing evidence regarding the low risk of germ cell tumors (GCT) in AIS. Prophylactic gonadectomy has been debatable in the CAIS management, mainly due to the absence of an accurate biomarker for GCT....

Background: Hypopituitarism is a rare condition characterized by the insufficiency of 2 and more hormones produced by anterior pituitary gland. The major causes of hypopituitarism are brain tumors located near or in the pituitary gland and/or hypothalamus, cranial radiation, chemo- or surgical therapy, cranial traumas, neuroinfections, autoimmune hypophysitis (immune-mediated inflammation of pituitary gland) etc. Brain tumors are the second most frequent type ...