ESPE Abstracts

Background: Serotonine transporter gene (SLC6A4) polymorphism is one of genetic aspects of appetite and mood disorders.Objective and hypotheses: To determine the frequencies of 5-HTTLPR locus in promotor part of serotonine transporter gene (SLC6A4) polymorphism in children with different forms of obesity.Method: We examined 191 pubertal obese children. Patients were divided: Group 1 (simple obesity) 143 children, 14.3±1.8 year...

Background: Polymorphic genes Val158Met gene catechol-O-metiltrasferaz (COMT) are used to be responsible for less neurotransmitters utilization.Objective and hypotheses: To determine the peculiarities of neurotransmitters levels in children with obesity and different genotypes of COMT gene.Method: We examined 191 pubertal obese children. Patients were divided: Group1 (simple obesity) 143 children, 14.3±1.8 years, 30.6±2.8...

Background: Several studies found a high prevalence of sleep disorders in PWS patients. It is assumed that Prader-Willi Syndrome (PWS) patients are at a high risk of sleep disordered breathing, such as obstructive sleep apnea (OSA), because of their childhood obesity, associated with muscle hypotonia, leading to upper airway collapse.Objective and hypotheses: We studied a group of PWS children (genetically confirmed, non-GH-treated) who performed complet...

Background: PROP-1 gene mutations are responsible for most of the cases of multiple pituitary hormone deficiencies (MPHD).Objective and hypotheses: We performed to evaluate the final adult height (FAH) in a group of patients with a PROP-1 gene mutations. Twenty-five patients (11 males) with a PROP-1 gene mutation, not treated before, were recruited. All the patients had been treated with a fixed rhGH dose (0.033 mg/kg per day) for 10.5 years (7.0–11...

Background: Hypogonadism is one of the major diagnostic criteria of Prader-Willi syndrome (PWS). A hypogonadotropic hypogonadism is often present as a result of hypothalamic dysfunction (together with other hormonal disorders, such as growth hormone deficiency and hypothyroidism).Presentation: A 8.5-year-old boy with genetically-confirmed PWS (maternal uniparental disomy) presented in our Endocrinology Unit for routinely follow-up. Therapy with rhGH was ...

Background: Hypothalamic hamartomas (HH) are rare non-progressive brain tumor malformations that occur early during brain development. Most of the cases are sporadic and nonsyndromic. Variation in size and location of the hamartoma within the hypothalamic region is not always associated with the severity of the clinical presentation. A wide range of symptoms could occur - from nonsymptomatic to severely affected cases that include seizures (mostly gelastic), behavioral difficu...

Background: Hereditary multiple exostoses (HME) is an autosomal dominant heritable disorder characterized by exostoses located mainly in the long bones of extremities. HME is caused by mutations in two genes: EXT1, EXT2.Objective and hypotheses: Growth hormone (GH) deficiency is very rare in children with HME and GH replacement therapy has not been well described.Method: A 12.5 years old girl was referred to our Department because ...

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,...