ESPE Abstracts

Introduction: Growth velocity is reduced in patients with GH deficiency and this may result in an increase in Body Mass Index (BMI). Treatment performed with Growth Hormone (GH) while accelerating growth velocity, might reduce BMI. The objective of this study was to evaluate BMI in patients with GHD at diagnosis, 1 y and 2 y after started treatment with GH and to compare if there is difference between the BMI of the patients with and without pituitary abnormalities.<p clas...

Introduction: It is well known that thyroid disease (TD) is more prevalent in patients with Down Syndrome (DS). Among the dysfunctions are congenital hypothyroidism (CH), subclinical hypothyroidism (SC-H), Hashimoto’s thyroiditis (HT) and Graves’ disease (GD).The evaluation of the occurrence of these diseases in patients with DS according to age is still poorly reported.Objective: Verify the prevalence of TD in children and adolescents with DS ...

Neonatal screening tests are used for the screening of genetic, endocrine and metabolic diseases. Preterm newborns have a higher false-positive and false-negative results in neonatal screening. The objective of this study was to estimate the prevalence of false-positive and false-negative results in the neonatal screening tests for phenylketonuria, congenital hypothyroidism, biotinidase deficiency and congenital adrenal hyperplasia (CAH) in preterm newborns in Curitiba, to ana...

Background: A portion of 160 kb on Xp21.2 is defined as dosage sensitive sex reversal, including NR0B1, which is considered the most likely candidate gene involved in XY gonadal dysgenesis if overexpressed. The excess of NR0B1 gene product seems to disturb testicular development by down regulating NR5A1, WT1, and SOX9. Xp duplication causes insufficient SRY expression leading to testis development failure. However, NR0B1 si...

Introduction: Generally, patients with X-linked hypophosphatemic rickets (XLH) experience normal puberty. However, they can be affected by metabolic and environmental factors that may predispose them to central precocious puberty (CPP) and impair their predicted final height, similar to the general population.Case Report: A female patient was diagnosed with XLH at three and received regular treatment with calcitriol and ...

Background: Life expectancy of children with human immunodeficiency virus (HIV) has increased due to highly active antiretroviral therapy. Metabolic disorders and changes in bone mineral density (BMD) are common in adult patients with HIV. There are few studies evaluating metabolic and bone involvement in children.Objective and hypotheses: To evaluate metabolic disorders and BMD in vertically HIV-infected children in four Chilean hospitals.<p class="...

Background: In Brazil there is a nutritional transition between child malnutrition and increasing prevalence of obesity.Objective and hypotheses: The study aims to identify the prevalence of overweight and obesity in children aged 5–18 years in five private and 15 public schools from city of Uberaba Brazil.Method: Anthropometric data, inventorys physical activities and socioeconomic aspects were evaluated from 1125 individuals...

Background: 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. Recent advances in genetic diagnosis are revolutionizing the clinician’s ability to obtain a molecular di...

MOPD is known to be caused by homozygous loss-of-function mutations in a specific gene, PCNT. Both intra- and interfamilial clinical variability (even for the same variant) have been frequently observed, which makes it difficult to infer a genotype–phenotype correlation. Pericentrin (PCTN) is a structural protein expressed in the centrosome that plays a fundamental role in anchoring protein complexes, regulating mitotic cycle and thus cell proliferation. High levels of m...

Failure to thrive is a term used to describe inadequate growth or the inability to maintain growth, which usually occurs in early childhood. Case report: female patient, 7 months old, referred to the pediatric clinic of Hospital de Clínicas de Porto Alegre due to a possible syndromic condition. He had no diagnosed comorbidity to date and was using only prophylactic ferrous sulfate and vitamin D. No family history of similar illness. Physical examination showed hypertric...