ESPE Abstracts

Background and objective: Given phenotype variability as well as limited utility of conventional endocrine investigations in reaching the diagnosis in a 46,XY patient suspected of a disorder of sex development (DSD), there is an increasingly stronger argument for considering targeted genetic sequencing at an earlier stage of the evaluation process. This study focused on identifying the relationship between clinical examination, endocrine and radiological assessment, as well as...

Background: Congenital hypogonadotropic hypogonadism (CHH) is caused by impaired function of GnRH neurons, which clinically manifests by incomplete or absent puberty and infertility. The phenotype may be broader with other developmental anomalies such as anosmia, which is known as Kallmann syndrome. To date, there are more than 40 genes in which mutations underlie CHH. Cornelia de Lange Syndrome (CdLS) is characterized by facial dysmorphia, psychomotor delay, ...

Introduction: Differentiation between constitutional delay of growth and puberty (CDGP) and congenital hypogonadotropic hypogonadism (CHH) during early adolescence is challenging, as patients exhibit a similar clinical picture and there are no definite clinical or biochemical markers that distinguish these 2 pathologies. A delay in diagnosis, especially for CHH, may have short and long-term health consequences. The aims of this study were: 1) To evaluate the u...

Background: Congenital Hypopituitarism (CH) is a rare heterogeneous genetic disorder characterized by the deficiency of pituitary hormones. CH can be associated with extra pituitary phenotypes such as midline craniofacial malformations. To date, a minority of patients carry pathogenic variants in more than 30 genes, and thus more than 80% of cases remain unresolved.Objective: To identify de novo pathogenic variants in no...

Background: The GH-IGF system plays an important role in strength gain. Some studies suggest that Zinc, Magnesium and Pyridoxine (ZMA) supplementation could increase GH/IGF and testosterone levels in young subjects. This hypothetical increase could lead to significant changes in body composition. ZMA is a very popular supplement, easily found in specialty stores, and it is presumed to increase GH, IGF-I and testosterone levels. However, studies are divergent regarding its effi...

Background: Body weight has a close correlation with bone mass in humans and high fracture rates has been reported in both obese and underweighted individuals. It is not clear the role of bone marrow adiposity (BMA) and the IGF system in this process.Aim: The aim of this study was to analyze bone composition and BMA in obese and non-obese children/adolescents and correlate them with the expression of the IGF type-1 receptor (IGF1R) in peripheral lymphocy...

Background: Maternal triglycerides, fatty acids, and their metabolites together with sugars and metabolic intermediates may play a role in newborn outcomes. Furthermore, maternal amino acids, acylcarnitines, lipids and fatty acids and their metabolites are associated with cord C-peptide independent of maternal BMI and glycemia, highlighting the potential contribution of maternal metabolites to offspring outcomes. This study examined the associations of materna...

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...

Introduction: The relationship between sports intensity and growth has become a concern in teenagers. Changes in the GH/IGF1 axis have been studied as biomarkers for training intensity in adolescents; however, reports on the effects of physical effort on GH and IGF1 levels are discordant and studies on GH and IGF1 responses in combat sports are scarce.Aim: To investigate the effects of a Jiu-Jitsu training session on serum IGF1 and IGFBP3 concentrations....

Background: Delayed puberty is defined as the absence of physical signs of puberty 2 to 2.5 standard deviations greater than the mean and affects 2% of the adolescent population. We present a male patient aged 16, presenting with delayed puberty. On direct questioning the patient revealed he had been taking regular Gamma-Aminobutyric Acid (GABA). These supplements appeared to suppress the hypothalamic-pituitary-gonadal (HPG) axis.<st...