ESPE Abstracts

Background: Short stature may be a source of social and affective stress in children and their parents, and thus impact negatively on their quality of life (QoL). Treatment by GH may improve QoL through normalisation of height.Objective: To evaluate height-specific QoL in short stature children after 1 year of GH treatment.Methods: Prospective study. Inclusion criteria were: having started GH treatment at Hôpital Necker-Enfant...

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...

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: Human IGF1 gene defects are characterized by intrauterine and postnatal growth retardation, sensorineural deafness, microcephaly and intellectual disability. Seven cases have been reported so far, and the underlying pathophysiology has been characterized in only three.Objective: To describe a patient with severe short stature presenting a novel homozygous IGF1 gene mutation and its underlying pathogenic mechanism.<p clas...

Objective: Most children with short stature remain without an etiologic diagnosis after extensive clinical and laboratory evaluation and are classified as idiopathic short stature (ISS). This study aimed to determine the diagnostic yield of a multigene gene analysis in children classified as ISS.Design and Methods: We selected 102 children with ISS and performed the genetic analysis as part of the initial investigation. ...

Background: Being born small for gestational age (SGA) is an associated condition to nonspecific 46,XY DSD (without molecular diagnosis and with no specific disorders of undermasculinization). However, the underlying mechanism of the relationship between the presence of genital abnormalities and intrauterine growth restriction is unknown. The GH-IGF system is crucial for sex differentiation in mice and in humans, members of this system were detected in embryon...

Aim: To develop a low cost formula as screening tool for identifying youths with overweight/obesity (OW/OB) at risk for impaired glucose tolerance (IGT).Methods and results: A retrospective observational study was performed in 1189 Caucasian youths with OW/OB aged 5-17 years, in whom information about family history for diabetes (FD), fasting glucose (FG), 2-hour glucose levels post-oral glucose tolerance test, alanine a...

The survival rate of young patients with cancer has greatly improved in the last decades, in part due to the introduction of new therapeutic agents and protocols.Chemotherapy may be associated with risk of ovarian dysfunction, permanent or transient amenorrhea, symptoms of ovarian insufficiency and infertility.It has been suggested that prepubertal ovary is less susceptible to deleterious effect of chemotherapy.<p class="abstex...

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: Severe primary insulin-growth factor-1 (IGF1) deficiency (SPIGF1D) is a rare cause of growth retardation. Diagnostic criteria include age- and sex-dependent low basal IGF1 levels (<2.5th percentile), height ≤ −3SDS, absence of growth hormone (GH) deficiency and of any secondary causes of growth failure.Objectives: Phenotypic description, follow-up and molecular studies in a cohort of patients diagnosed with growth f...