ESPE Abstracts

Background and Objectives: In adults, discordant associations exist between insulin-like growth factor-I (IGF-I) and blood pressure with scarce reports in apparently healthy children. IGF-I levels increase during puberty in parallel to calcium and phosphorus levels. In this context, our aim is to study the association between IGF-I and blood pressure in apparently healthy children, together with the interaction of the serum calcium-phosphorus product (Ca*P...

Background: Pseudohypoaldosteronism type I (PHA1) is a rare disease of mineralocorticoid resistance (MR). Neonatal manifestation leads to life-threatening dehydration due to massive salt-loss, acidosis and frequently, failure to thrive. Two clinically and genetically distinct forms exist, namely systemic and renal PHA1 caused by mutations in the subunit genes (SCNN1A, SCNN1B, SCNN1G) of the epithelial sodium channel (ENaC) and mineralocorticoid recep...

Background: Insulin-like growth factor I (IGF-I) is one of the important hormonal mediators of human growth. Circulating IGF-I exists in a ternary complex bound to the acid-labile subunit (ALS) and one of its six binding proteins (BPs). IGF-I bound to ALS and BPs needs to be liberated by either Pregnancy Associated Plasma Protease A (PAPP-A) or A2 (PAPP-A2) to reach its receptor. Stanniocalcin 2 (STC2) is a potent inhibitor of both PAPP-A and PAPP-A2. Genome-wide association s...

Pseudohypoaldosteronism is one of the least explored questions in clinical endocrinology. That leads to complexity in diagnosis and differential diagnostics of disease. A boy, aged 13 days was admitted to the hospital with complains: vomiting, low weight gain, constipation. Biochemical blood assay (BBA) and acid-base balance of blood: level of sodium – 127 mmol/l (N 132–145 mmol/l), potassium – 6.6 mmol/l (N 3.1–5.1 mmol/l), chlorine &#15...

Background/Aims: 46,XY gonadal dysgenesis (GD) is classified as complete (CGD) or partial (PGD) depending on gonadal morphology and function. In contrast to the typical female external genitalia in CGD, the phenotype of PGD is variable depending on androgen production. A diagnosis of PGD is based on clinical/biochemical features, gonadal histology and genetic findings. The aim of this study is to characterise these features, particularly histological, in a lar...

Background: X-linked hypophosphatemic rickets (XLHR) represents the most common form of genetic hypophosphatemia. Even though skull and cranio-vertebral anomalies of potential neurosurgical interest are observed in children with XLHR, their actual incidence and characteristics are not well established. We aimed to analyze the incidence of Chiari type I anomalies in children with XLHRMethods and materials: Our retrospecti...

Background: Growth during infancy is a continuation of the rapid fetal growth and its regulation is complex and multifactorial. It is well-established that insulin-like growth factor-I (IGF-I) and its regulators (e.g. IGF binding proteins (IGFBP-3) and pregnancy-associated plasma protein-A2 (PAPP-A2)) are important for prenatal and postnatal growth; however, their significance for growth during infancy is not fully explored.Aims: The aim...

Objectives and Study: Insulin-like growth factor I (IGF-I) regulates fetal and infant growth and is influenced by nutrition during infancy. Breast fed children have lower IGF-I levels than formula fed infants and the reason is partly explained by lower levels of protein and higher level of polyunsaturated fatty acids (PUFA) in breast milk compared to formula. Environmental factors, such as nutrition, have long-lasting influences on hormone secretion and on future metabolic hea...

Background: Exercise programs are related to the anabolic function of GH/IGF-I axis.Objective and hypotheses: To analyse IGF-I, IGFBP-3 and ALS serum concentrations in adolescent swimmers at different stages of training season, and compare them with physical performance and body composition.Method: Nine male athletes, aged 16–19 years, who trained regularly throughout the season, were studied. IGF-I, IGFBP-3 and ALS were recor...

Background: Sexual maturation is closely linked to growth, suggesting common pathways between the reproductive development and the growth hormone/insulin-like growth factor-I (GH/IGF-I) axis. IGF-I bioavailability is regulated by Pregnancy associated plasma protein-A (PAPP-A), Pregnancy associated plasma protein-A2 (PAPP-A2) and Stanniocalcin 2 (STC2). A large genome-wide association study (GWAS) identified PAPP-A, PAPP-A2 and STC2 to represent loci strongly a...