ESPE Abstracts

Purpose: Type 1 diabetes mellitus (DM) is the most common cause of diabetes in children and adolescents. Prevalence of monogenic DM is estimated for about 1%–5% of all patients with DM. Overlapping clinical features of various forms of diabetes make differential diagnosis challenging. This study was performed to investigate frequency and genetic etiologies of monogenic diabetes in a single academic center.Methods: This study included 466 consecutive...

Background: Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is caused by a deficiency in GnRH production, secretion or action. IGD is a highly heterogeneous disorder with wide phenotypic spectrum including Kallmann syndrome (KS) with anosmia and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). More than 30 different causative genes have been identified in several studies. However, there are no data on the prevalence, clinical characteristics, and mole...

Objectives: Vitamin D deficiency is prevalent in pediatric population. Since low compliance may inhibit appropriate vitamin D supplementation in daily dosing regimen, intermittent high dose administration may be considered. We aimed to evaluate the efficacy and safety of monthly administration of oral cholecalciferol compared with daily dosing regimen in adolescents with vitamin D deficiency.Methods: This retrospective s...

Objective: To evaluate the level of 25 (OH) D – vitamin in obese adolescents living in the South of Russia.Materials and method: We examined 20 obese adolescents with varying degrees of severity, aged 15.5±0.3 years, ten girls and boys. The comparison group consisted of ten healthy adolescents matched for age and sex. Obesity was calculated by BMI. Level of 25-(OH) D – vitamin was studied in the laboratory by ELISA (nmol/l). Furthermore, t...

Background: Fetuin-A plays a role in insulin resistance and cardiovascular disease.Objective and hypotheses: The aim of present study was to determine the relation between fetuin-A levels and caridiometabolic risk factors and to investigate effect of serum fetuin-A to insulin sensitivity indices for determining whether fetuin-A is additional marker of insulin resistance in prepubertal children.Method: Ninety-nine prepubertal Korean...

Background: The GHR-exon3 and the -202 A/C IGFBP3 polymorphisms have been suggested to affect responses to recombinant human GH (rhGH) therapy in some individuals with short stature. This study aimed to assess the influences of the two polymorphisms on treatment outcomes in patients with GH deficiency (GHD).Method: In 72 (32 girls and 40 boys) children with confirmed diagnosis of GHD, genotyping and serial measurements of auxological and endocrinological...

Background: Leptin has a major role in the metabolic gating of pubertal maturation. Kisspeptin is an essential gatekeeper of puberty. Neurokinin B (NK B) is not widely known in the precocious puberty (PP) but it is coexpressed with kisspeptin in the arcuate nucleus and synchronizes the pulsatile secretion of kisspeptin.Objective and hypotheses: Leptin, kisspeptin, and NK B are influenced by energy balance and metabolic status has a clear impact on the ti...

Background: As newborn screening test (NST) became popular, the incidence of congenital hypothyroidism (CH) was raised. But not all CH children require lifelong levothyroxine (LT4) replacement therapy.Objective and hypotheses: We aimed to analyse predicting factors suggesting transient CH (TCH) compared to permanent CH (PCH) or transient thyroid function test (TFT) abnormality who had a positive screening results in our centers for the past de...

Background: Glycogen storage disease (GSD) is an inherited metabolic defect of metabolic defect of glycogenolysis and gluconeogenesis. Patients with GSDs are associated with endocrine abnormalities such as short stature, delayed puberty, fasting hypoglycemia, and dyslipidemia. In addition, patients with GSD 1b are also at risk of autoimmune hypothyroidism. Therefore, this study was performed to investigate endocrine complications in patients with GSD.<p cl...

Purpose: Patients with mixed gonadal dysgenesis (MGD) and ovotesticular disorders of sex development (DSD) usually present with asymmetric gonads. Differential diagnosis of these conditions is based on karyotype and pathological findings of gonads. However, it is difficult to determine sex of rearing and to predict long-term outcomes. This study investigated the clinical features, karyotype, sex of rearing, and pubertal outcomes of patients with MGD and ovotesticular DSD.<...