ESPE Abstracts

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,...

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 (...