ESPE Abstracts

Relevance: Evaluation of bone metabolism is a new scientific direction in the study of the long-term effects of childhood obesity.Objective: To study markers of bone metabolism in children and adolescents with obesity.Materials and Methods: 74 children with overweight and obesity in accordance with the WHO criteria and 25 healthy children with an average age of 15.4[11.6;19.2] year...

Background: MEN1 is an autosomal dominant disorder that is due to mutations in the tumor suppressor gene MEN1, which encodes a 610-amino acid protein, menin. MEN1 is characterized by the occurrence of parathyroid, pancreatic islet, and anterior pituitary tumors. The prognosis for MEN1 patients might be improved by presymptomatic tumor detection and undertaking treatment specific for MEN1 tumors.Objective and Hypotheses: Genetics is increasingly becoming ...

Background: Adequate vitamin D level is essential for optimal child’s growth. Small for Gestational Age (SGA) is a common cause of short stature in childhood. Being born SGA is associated with a risk of developing insulin resistance.Objective and hypotheses: The aim of the study was to evaluate serum vitamin D levels in short children born SGA and appropriate for gestational age (AGA) and to assess their relationship with insulin sensitivity.<p ...

The pathogenesis of altered bone metabolism leading to bone mass loss and fractures in patients with cystic fibrosis (CF) is complex, and can involve malnutrition, malabsorption, lack of physical activity, vitamin D and K insufficiency, systemic inflammation, respiratory failure, liver disease, hypogonadism, and treatment with glucocorticosteroids. Many studies reported osteopenia, osteoporosis and fractures in adults with CF, with bone loss starting at an earlier age than in ...

Background: Obesity is an increasing problem among children and adolescents in recent decades however official statistics are contradictory.Objective and hypotheses: The purpose of this epidemiological study was to determine the prevalence of obesity in children and adolescents in the Udmurt Republic – the region in European part of the Russian Federation with a child population of 300 thousand people.Method: According to the ...

Approximately 12% to 17% of MEN1 patients are diagnosed with the disease in the first two decades of life. Clinical evident disease appears uncommon before adolescence, with consensus guidelines currently recommending phenotype screening of confirmed MEN1 carriers commencing by age 5 years. A recent publication reviewed the recent literature in this area, that demonstrates that mortality is rare in children and young adults, whereas morbidity is not uncommon for various endocr...

Introduction: MEHMO syndrome (mental retardation, epileptic seizures, hypogenitalism, microcephaly, and obesity) is a rare X-linked disorder causes by EIF2S3 gene mutations. This gene encodes a key factor for integrated stress response and initiation of protein synthesis. Since many hormones are proteins or peptides by nature, some of the reported cases of MEHMO syndrome include endocrine disorders: hypopituitarism (hypogonadism, growth hormone defici...

Background: To evaluate the efficacy of thyroidectomy, it is necessary to know its complications; however, there is a great discrepancy in the literature regarding its incidence. A greater surgical aggressiveness achieves better control of the disease, but may be accompanied by more complications. Hypocalcemia is the most frequent potential complication after thyroidectomy, but its persistence can lead to serious systemic effects. The objective of this study i...

Introduction: The combination Down/Klinefelter syndrome was first described in 1959 by Ford. Its frequency is 0.4-0.9 / 10,000 newborn boys.Case presentation: A boy aged 5 y 4 m, born from a 2nd high-risk pregnancy (mother aged 44 with 1st pregnancy resulting in spontaneous abortion at 12 gestational weeks and with twice-established anemic syndrome) with (+) biochemical screening for Down syndrome. Birth was given via pl...

Background: POR deficiency is a rare form of congenital adrenal hyperplasia, transmitted in an autosomal recessive trait, that is characterized by ambiguous genitalia, impaired steroidogenesis and skeletal malformations similar to those of Antley-Bixler syndrome. It is caused by mutations in the P450 oxidoreductase gene (POR), an electron donor for all microsomal P450 enzymes including the three steroidogenic enzymes P450c 17 (17 alfa-hidroxylase /17,20 lyase)...