ESPE Abstracts

Background: Kocher-Debre Semelaigne syndrome (KDSS) is a rare form of myopathy in patients with longstanding moderate-to-severe hypothyroidism.Objective and hypotheses: We present the case of 7-year-old boy who developed muscular pseudohypertrophy, associated with long-term untreated hypothyroidism.Method: A 7-year-old boy presented with growth failure, lassitude and lethargy. He was born small for gestational age at 28 weeks gesta...

Background: Primary and secondary prevention of childhood obesity is an essential public health priority.Objective and hypotheses: To determine relationships between families, genetic and metabolic obesity risk factors in children.Method: 782 children (204 lean/578 obese; m/f=414/368) aged from 2 to 17.9 years were examined and classified in line with the pubertal stage: 392 prepubertal, 141 early, and 249 late puberty. Family hist...

Background: Increased caloric intake in dietary obesity (DO) could be driven by central mechanisms regulating reward-seeking behavior. Leptin modulates the mesolimbic dopamine system and vice versa.Objective and hypotheses: We supposed D2 dopamine receptor agonists to influence weight gain and leptin level in genetically unmodified rats (GUR) with high caloric diet (HCD) as dietary obesity.Method: Male rats (n=48,...

Background: Unlike to adults, the side effects of long-term administration by amiodarone (A) of life-threatening arrhythmias (LThA) on thyroid function still is not studied exactly in children.Methods: Twenty-six children with LThA aged 1 week to 16 years (mean 10 years) treated by A were examined. The mean duration of oral treatment ranged from 1 month to 47 months (mean 12.5 months). We estimated serum level of T4, T3, TSH, antibo...

Background: Hypophosphatasia (HPP) is inherited in an autosomal recessive fashion, although symptoms in heterozygous carriers are described. Age at symptom onset determines six clinical forms with different severity and prognosis, but showing phenotypic overlapping.Objective: We aimed to show this genetic and clinical variability by analyzing two cases.Case 1: Male, born at 38+5 weeks with 2250 g (−2.22 SDS) and 45 cm (&#8722...

Background and aims: To study the prevalence of metabolic syndrome and its components (impaired fasting and after overload glucose, type 2 diabetes mellitus, low cholesterol HDL, and high triglycerides) in children with obesity.Methods: This research includes 550 (65.8% boys) children, recruited from Pediatric Endocrinology Department, with abdominal obesity. We measured BMI, waist circumference, blood pressure with standard instrumentation and glucose (...

Objective: The aim of this study were to investigate the level of inhibin B and its relationship with testosterone, anti-Müllerian factor, basal, and GnRH-stimulated gonadotropin hormones (LH and FSH) concentration in boys with constitutional delay of puberty.Material and methods: In the study were included 15 boys (mean age 14.5±1.6 years) in Tanner stages 1–2. The investigation consists of genital examination with prader orchidometer, de...

Background: Testicular adrenal cell rest tumours (TART) are common in adult males treated for congenital adrenal hyperplasia (CAH) and contribute to reduced fertility. Their prevalence varies between 6-50%, and the incidence raises during adolescence.Aim: To explore the appearance of TART in a group of 25 male children in the age group 3-18 years who were treated for CAH.Methods: Compliance to the treatment was assessed through 17O...

Background: The most common forms of maturity-onset diabetes of the young (MODY) are MODY-GCK and MODY-HNF1A. Prevalence of MODY in Russian population is unknown.Aims and objectives: To compare clinical laboratory characteristics of MODY-GCK and MODY-HNF1a in children and adolescents, to estimate prevalence of MODY.Method: 151 children and adolescents were screened for mutations in GCK and HNF1A. HbA1c, fasting and stimulated gluco...

Background: An accurate and comprehensive assessment of steroid hormones is pivotal for differential diagnosis of disorders of sex development (DSD) 46,XY, a part of which may be due to defects of testosterone biosynthesis.Objective and hypotheses: To describe and characterise a case of DSD 46,XY presented with unusual serum steroid profile.Method: Serum steroid hormones were analysed by liquid chromatography-tandem mass spectromet...