ESPE Abstracts

Background: Sex hormone-binding globulin (SHBG) is the major sex steroid carrier protein. Its production is negatively regulated by insulin and monosaccharides. The concentration of SHBG increases between 16 and 27 weeks gestation and is negatively associated with pre-gestational BMI and weight gain during pregnancy. The link of SHBG with cardiovascular risk is poorly understood.Objective and hypotheses: In obese pregnant women, we aimed to study the ass...

Background/Introduction: Whole exome sequencing (WES) revolutionized clinical genetics in patients with differences of sex development (DSD). However, our ability to interpret WES data is limited by our incomplete understanding of the mechanisms involved in DSD. Thus, we created a methodology that scores potential candidates based on single cells transcriptomics of human male gonadal cells and applied it to WES data from a cohort of genetically male (46,XY) DS...

Body Mass Index (BMI) has a high association with body fat percentage and direct association with a higher degree of comorbidities. Categorizing patients only by the degree of obesity, as has been done over time, restricts the possibility of detecting and giving timely treatment to other aspects. The Edmonton Obesity Staging System for Pediatrics (EOSS-P) has been proposed as a tool to categorize obesity not only by BMI, but also by assessing metabolic complications, functiona...

Dominant activating mutations in GCK gene are known to be the cause of congenital hyperinsulinism (CHI). Patients with GCK mutations can have a wide range of clinical presentations, varying from asymptomatic adult onset hypoglycemia to medically unresponsive severe neonatal onset HI. Overall, 5 of 214 (2.3%) patients diagnosed with HI over the last 10 years in Russia were found to carry pathogenic variants of GCK gene. Only 2 of these 5 patients ...

Congenital hyperinsulinism (HI) is the most common cause of hypoglycemia in children and infants. It is characterized by a dysregulation of insulin secretion from pancreatic β-cells and mostly associated with recessive inactivating mutations in the β-cell ATP-sensitive potassium (KATP) channel genes – KCNJ11 and ABCC8. Dominantly inherited mutations in these genes are usually associated with mild forms of diazoxide responsive HI. Rec...

Background/Aims: An increase in growth rate in children suffering from growth hormone deficiency (GHD) subjected to recombinant growth hormone treatment (rGHT) was shown to be accompanied by acceleration of metabolic processes that may stimulate hematopoiesis. Therefore, the aim of the present study was to examine the effects of one year rGHT on erythropoietin (EPO) and Granulocyte Macrophage Colony Stimulating Factor (GM-CSF) levels in GHD children.Meth...

Background: Mutations in PROP1 gene are the most common known genetic cause of multiple pituritary hormone deficiency. It is characterized by somatolactotroph, thyrotroph, gonadotroph and sometimes corticotroph deficiencies and pituitary hyper- or hypoplasia. The karyotype 47,XYY occurrs in 1 in every 1000 live male birth. Some studies report that the phenotype of XYY syndrome includes tall stature, behavioral problems and low fertility.Objectiv...

Background: Vitamin D deficiency has a high prevalence in children. It is produced by the skin from exposure to sunlight but its synthesis is influenced by many external and internal factors.Objective and hypotheses: The study aims to evaluate vitamin D in children with different pathology and highlights the influencing factors of it.Method: We evaluate 25-hydroxyvitamin D levels in 84 patients, sex ratio 1.15:1, aged between 3 mon...

Background: Only a few case reports have described isolated postprandial hyperinsulinaemic hypoglycaemia (PPHH) in children.Objectives: To describe a single tertiary paediatric centre’s experience in the management of isolated PPHH.Patients and methods: Six children (three females) were identified. A retrospective review of the clinical characteristics, diagnosis, management and follow-up of patients with PPHH was performed. I...

Background: Obesity in childhood and adolescence represents a major public health problem of our century and the leading cause of premature cardiovascular disease (CVD). A moderate elevation of thyroid-stimulating hormone (TSH) concentrations is frequently observed in obese children.Aim: The aim of our study was to evaluate the association of TSH and free thyroxine (FT4) concentrations with the clustering of cardiometabo...