ESPE Abstracts

Introduction: Premature adrenarche (PA) is usually define as the appearance of clinical signs of androgen action before the age of 8 years in girls and 9 years in boys, associated the serum DHEAS above 40µg/dl.Aims: 1) To characterize a population of prepubertal children with PA regarding birth weight, anthropometry, growth velocity, height difference, bone age, IGF1 and DHEAS. 2) To compare IgF1, bone age, growth v...

Background: In premature adrenarche (PA) children bone age (BA) may be greater than chronological age (CA), however final height is usually within target height (TH).Objective and hypotheses: Aim of the study was to evaluate the evolution of BA in girls with PA.Method: We studied retrospectively the files of 60 girls with PA followed in our unit. Anthropometric data and Tanner pubertal status were determined in each visit and BA wa...

Background: Obesity is accompanied with the development of serious complications, including behavioural disorders. Obesity with impaired neuroendocrine status confirmed, but papers describing these interactions are a bit.Objective and hypotheses: To compare the state of neuroendocrine status in children with various forms of obesity and normal weight control to the evaluation of central hormonal regulators of energy balance.Method:...

Background: Pituitary apoplexy (PA) is a rare clinical emergency in pediatric population. In patients with apoplexy-like symptoms, clinical and imaging features of PA, caused by hemorrhage in a pre-existing macroadenoma, are sometimes difficult to distinguish from Rathke cleft cyst (RCC).Case presentation: A 14.5-year-old boy, with an uneventful past medical history except for mild COVID-19 infection six months earlier, ...

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by 21-hydroxylase deficiency in 95% of all cases. This disorder is related to the mutation of CYP21A2 gene that is located in a multiallelic complex called RCCX module showing tandem copy number variation. Molecular genetic analysis of genes located in such region is frequently difficult but the accurate diagnosis of patients suspected with CAH requires a complex molecular analysis.<...

Background: Since its discovery in 2012 the ‘browining’ adipokine irisin is known to lead to increased thermogenesis and energy expenditure. Studies in children are scarce, with results similar to most studies in adults.Objective and hypotheses: To establish a link between total and abdominal fat mass, physical activity and irisin in preschool age.Method: Height, weight and waist circumference (WC) of 40 healthy pre-puber...

Background: More than >90% of cases of congenital adrenal hyperplasia (CAH) are caused by 21-hydroxylase deficiency, steroid 11β-hydroxylase deficiency accounts for 5–8% of cases.Objective and hypotheses: To seek evidence on the prevalence of CYP11B1 mutations in prepubertal girls, adolescents and adult females with clinical signs of hyperandrogenemia.Method: The study included 31 girls with premature adrenar...

Background: Pancreas aplasia (PA) and neonatal diabetes mellitus (NDM) syndrome is a rare disease that usually presents in the 1st months of life.Objective and hypotheses: We aimed to characterize molecular genetic defects in a cohort of six NDM/PA patients with up-to-date unknown pathogenesis with optimum genetic testing.Method: As part of our ESPE-RU-project ‘Understanding the molecular basis of diabetes mellitus associated ...

Background: Wolfram syndrome (WS) is a monogenic disorder associated with diabetes mellitus (DM), optic atrophy, diabetes insipidus (DI), neurological deterioration and deafness. Growth has been poorly characterised in case series.Objective and hypotheses: To determine growth and prevalence of endocrine disorders, qualify therapies and metabolic outcome for DM, and relationship of cranial MRI findings to clinical findings in children and young people (CY...

Introduction: Since the beginning of the coronavirus pandemic, an increase in cases of new-onset type 1 diabetes (T1D) in children and adolescents has been observed in many countries, including Brazil.Objectives and Methods: In this descriptive study, we aimed to investigate the frequency of new-onset T1DM and the frequency and severity of diabetic ketoacidosis (DKA) in a referral Brazilian University Hospital, 38 months...