ESPE Abstracts

Background: Precocious puberty is defined as the onset of pubertal signs in girls younger than 8 years of age and in boys younger than 9 years of age. Central precocious puberty is due to an early activation of the hypothalamic-pituitary-gonadal axis. Different candidate genes were involved in the etiology of the disease. To date, mutations in the maternally imprinted gene MKRN3 are most frequently found in families with CPP.Objective and hypotheses: The...

Background: Homozygotes for the single nucleotide polymorphisms (SNPs) rs242941 and rs1876828 of the corticotrophin-releasing hormone receptor 1 (CRHR1) gene were previously associated with lower stimulated and basal cortisol levels respectively in asthmatic children on inhaled corticosteroids. Heterozygotes for rs41423247 of the glucocorticoid receptor (NR3C1) gene were found to have higher basal cortisol levels.Objectives</stro...

Pediatric overweight and obesity are also an issue in children and adolescents with type 1 diabetes (T1D). Body Mass Index (BMI) is an accurate and widely used clinical method for assessing childhood obesity.Objective: To analyze the BMI-standard deviation scores (SDS) in Bulgarian children and adolescents with T1D and its relationship with age, gender, type of insulin treatment, and HbAlc.Materials and Met...

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: The beginning and evolution of physiological puberty may be occurring earlier, resulting in change in the age at which clinical investigation on precocious puberty must be conducted, as well as concerns regarding the possible deleterious effects of hormone exposure in a later stage of life.Objective and hypotheses: Assess age of beginning and evolution of puberty in boys and girls acknowledging the age of thelarche (T), menarche (M), period b...

Background: Several genetic defects (GHR, SHOX, GHSR, NPR2, IGFALS) have been reported in children classified as ISS. ISS children are GH sufficient and about one third of them show low IGF-I levels, suggesting some degree of GH insensitivity.Objective: To explore potential genetic defects in ISS children suspicious of GH insensitivity, selected by low IGF-I levels and low response to IGF generation test.<...

Background: Bone involvement is described as a relevant sign in patients suffering Gaucher disease (GD).Objective and hypotheses: To analyze the long-term effect of enzyme replacement therapy on bone mineral density, a retrospective observational study was conducted in a cohort of 34 GD pediatric patients (14 males, 20 females, median age 11.3 years).Method: Lumbar spine (LS) (L2–L4, N: 34) and total body (TB) (N: 24) bone min...

Introduction: Abetalipoproteinemia is a rare genetic disease with autosomal recessive inheritance, caused by biallelic mutations in the microsomal triglyceride transfer protein (MTTP) gene¹. Its worldwide prevalence is estimated at 1:1,000,000², with approximately 100 cases reported in the literature³. Epidemiological data on this pathology in Brazil are not found in the literature.Case Report: J.O.S.C, a ...

Background: Pituicytoma is a very low-grade glioma that originate in the neurohypophisis and infundibulum.Objective and hypotheses: Describe diagnosis and treatment of associated pituicytoma and ACTH-secreting adenoma in a 6-year-old girl.Method: Case report and literature review.Results: We report the case of a 6-year-old presented with growth failure and associated weight gain, premature pubarche, and hyper...

Background: Newborn screening for congenital adrenal hyperplasia (CAH) is based on the determination of 17-hydroxyprogesterone (17OHP) on blood and its need is confirmed by the most recent guidelines on the subject. In Italy this screening is not mandatory, and its application is on a regional basis. Among its disadvantages, it is well known the high frequency of false-positives, in particular in premature babies and those born small for gestational age. Howev...