ESPE Abstracts

Introduction: Mutations in the GH1 promoter are a rare cause of isolated GH deficiency (IGHD). In order to find the molecular cause of short stature due to IGHD, three siblings (2 M) born to consanguineous parents without mutations in the GHRHR and GH1 coding regions were screened for mutations in the GH1 promoter and locus control region. All patients harbored two variants (c.−123T>C and −161C>T) in homozygous state in the GH1 promoter, not found in 100 co...

Background: Isolated Growth Hormone Deficiency (IGHD) is usually associated with a delayed bone age. A genetic cause for IGHD is more frequently found in patients with familial cases and/or consanguineous parents.Objective and hypotheses: To diagnose the genetic cause of IGHD and clarify the unusual clinical presentation of advanced bone age in one patient born to consanguineous parents.Method: Sanger sequencing of GH1, <e...

Background: The aetiology of congenital hypopituitarism (CH) is unknown in the majority of patients. In our cohort of 200 cases, it was possible to establish the genetic cause in only 13 patients (6.5%). Copy number variants (CNVs) have been implicated as the cause of genetic syndromes with previously unknown aetiology.Objective: To study the presence of CNVs and its relevance in patients with CH of unknown cause associated with complex phenotypes.<p...

Introduction: The diagnosis of Congenital Adrenal Hyperplasia (CAH) is a challenge due to the complexity of its pathophysiology and the variety of clinical manifestations. Female newborns (NB) with classical forms present virilization of the external genitalia while in boys it is usually normal. Salt-losers boys and girls are highly susceptible to develop acute adrenal insufficiency and death in the first weeks of life; for these reasons, Neonatal Screening (NS) programs have ...

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: Mauriac Syndrome (MS) is currently an extremely rare complication in type 1 diabetes mellitus (DM1). It is characterized by the triad: poor metabolic control, dwarfism and hepatomegaly. Other findings are elevated transaminases, dyslipidemia, cushingoid features and delayed puberty.Case: Male patient with DM1 since 5 years age. Coinciding with a family breakdown, from the age of 7 his metabolic control deteriorated significan...

Background: Non-alcoholic fatty liver disease (NAFLD) is a highly prevalent chronic liver disease which occurs in the setting of insulin resistance and increased adiposity. It has rapidly evolved into the most common liver disease seen in the pediatric population. NAFLD can be divided into non-alcoholic fatty liver (NAFL), which denotes bland steatosis, and non-alcoholic steatohepatitis (NASH), which is marked by steatosis and lobular inflammation and hepatoce...

Background: Primary ovarian failure (POF) is a major cause of female infertility. POF is characterized by amenorrhea, hypo-estrogenism and elevated gonadotrophin levels. In POF disorder, several genetic alterations have been described, however in most of the patients the etiology of this disorder remains unknown.Objective and hypotheses: To identify new genes implicated in the development of POF using Next-Generation Sequencing (NGS).<p class="abstex...

Background: Although a large number of publications show a high prevalence of Metabolic Syndrome (MS) during childhood, to date, there is no uniform definition for evaluating this condition in children and adolescents. In the pediatric population, there are difficulties for characterizing this condition and the various criteria used might lead to underdiagnosis. In recent years, the triglycerides/HDL (TG/HDL) ratio has been proposed as a new marker.Objec...

Background: CNS tumors are the most frequent solid tumors in pediatric population. The IGF system of ligands and receptors are known to play an important role in both normal and neoplastic growth. Recently, we have shown that in paediatric gliomas, IGF-1R nuclear localization was significantly associated with both high grade tumours and increased risk of death, suggesting that nuclear IGF-1R localization may contribute to an aggressive behaviour of these tumours.<p class="...