ESPE Abstracts

Introduction: Prader-Willi Syndrome (PWS) is the most frequent cause of genetic obesity. It has been described that these patients require a reduction in caloric intake of 20- 40% compared to general population. Since 2000, with the approval of growth hormone (GH), the evolution of obesity has changed and it seems that caloric requirements could be different.Methodology: Observational, descriptive, cross-sectional and re...

Indels are highly abundant in human genomes and have contributed massively to genome evolution. However, the role of indels and their underlined mechanisms of mutagenesis in Mendelian disorders still needs to be appreciated. To explore the contribution of indels in a monogenic disorder, we analyzed all indels already described in the AR gene, including three novel indels found in our cohort. We analyzed the indel distribution through the AR coding region, compared wit...

Introduction: Diabetes insipidus (DI) is a rare disease in children. In most cases it is acquired and central in origin (CDI). The most frequent cause of acquired CDI is brain tumor and idiopathic forms represent between 20-50% of cases, depending on the series. Autoimmune hypophysitis is a rare cause of DI and is a presumptive diagnosis with a suggestive brain MRI and ACTH and TSH deficiencies as the most common hormonal involvement, although it can manifest ...

Background: Congenital hypogonadotropic hypogonadism (CHH) is caused by impaired function of GnRH neurons, which clinically manifests by incomplete or absent puberty and infertility. The phenotype may be broader with other developmental anomalies such as anosmia, which is known as Kallmann syndrome. To date, there are more than 40 genes in which mutations underlie CHH. Cornelia de Lange Syndrome (CdLS) is characterized by facial dysmorphia, psychomotor delay, ...

Background: Childhood obesity is one of the most prevalent and challenging health care concerns. In this context, insulin resistance (IR) is an important disorder with strong association with metabolic (type 2 diabetes, hypercholesterolemia) and cardiovascular (hypertension, atherosclerosis) outcomes. Clinical trials have been showing Metformin as an effective drug on reducing the IR and BMI. However, there is little data on use of metformin in children....

Introduction: Growth is a complex process influenced by several genetic factors both pre and postnatal, in which 80% of the height variation is explained by genetic factors. Nevertheless, the standard medical evaluation of short stature (SS) relies upon physical examination and laboratory parameters and identifies a pathological cause of SS in 1–40% of individuals. Rearrangements affecting chromosome 15 are rare and affected patients show a variety of nonspecific features...

Background: The diagnosis of 46,XY disorder of sex development (DSD) due to 5-alpha reductase 2 (5α-RD2) deficiency has been based on testosterone:dihydrotestosterone (T:DHT) ratio, urinary steroid profiling and mutational analysis of SRD5A2 gene. The biochemical hallmarks of 5α-RD2 deficiency include increased T:DHT ratio. However, several difficulties are observed in the DHT measurement leading to misdiagnosis. The mutational analysis of the SRD5A2 has been propose...

Background: Seip-Berardinelli syndrome is a rare form of congenital lipodystrophy.Objective and hypothesis: To report a patient later diagnosed with Seip-Berardinelli syndrome referred initially for evaluation due to low weight gain.Population and/or methods: We performed the report of the case along with a literature review.Results: The patient was referred due to low weight gain. She was the second daughter...

Background: Obesity is a worldwide epidemic affecting adults and children. Social changes throughout history have contributed to modifications in nutrition and physical activity levels. These changes in lifestyle affected health, increasing the number of metabolic and cardiovascular diseases. Obese children already have a low grade systemic inflammation as well as markers of increased cardiovascular risk. The endothelial function is an important and early marker of atheroscler...

Background: Autosomal recessive omodysplasia is considered a rare skeletal dysplasia characterized by severe micromelia with shortening and distal tapering of the humeri and femora.Objective and hypothesis: To report the prenatal findings of a patient with autosomal recessive omodysplasia, a rare condition characterized by disproportionate short stature.Population and/or methods: We performed a description of the case along with a ...