ESPE Abstracts

Introduction: Prolonged evolution of an untreated hypothyroidism can lead to thyrotropic cell hyperplasia, which could be indistinguishable from a pituitary macroadnoma on resonance. Differential diagnosis is very important since it allows to avoid aggressive therapeutic behaviors.Case report: We show a 3-year-old girl who, in the context of a study due to psychomotor retardation, borderline head circumference and coarse features, presented in magnetic r...

Objectives: Somatrogon is a long-acting recombinant human growth hormone (GH) approved in the EU and other countries for once-weekly treatment of pediatric patients with GH deficiency (GHD). In this analysis, height outcomes of somatrogon-treated patients in a phase 3 trial (CP-4-006) were compared with historical data from matched somatropin-treated patients enrolled in KIGS.Methods: In trial CP-4-006, patients were ran...

Background: Mutations in SHOX or its regulatory regions have been detected in ~70% of Léri-Weill dyschondrosteosis (LWD) and ~2.5% of idiopathic short stature (ISS) cases, suggesting the implication of other genes or loci. Recent studies have identified NPR2 defects in ISS patients.Objective and hypotheses: To investigate if NPR2 mutations can account for a proportion of the cases referred for LWD and ISS in whom no SHOX/PAR1 mutation was detected.<...

Introduction: Childhood obesity and insulin resistance (IR) are rising in prevalence, increasing the future adults' cardio-metabolic risk. One of the potential mechanisms behind these alterations is oxidative stress, fruit of increased free radical production and diminished antioxidant defense. Although low plasma vitamin concentrations and oxidative stress have been observed to be associated with obesity in adults and children, their association with IR i...

Background: The first three children reported to have biallelic mutations in RNPC3 presented with growth hormone (GH) deficiency and pituitary hypoplasia (MIM#618860). RNPC3 codes for a minor spliceosome protein required for U11/U12 small nuclear ribonucleoprotein formation and splicing of U12-type introns. The underlying mechanism causing GH deficiency in these patients is not fully understood. Moreover, whether the association of further ho...

Introduction: Transient hyperinsulinism is described in neonates with stress factors (intrauterine growth restriction (IUGR), large for gestational age (LGA), perinatal asphyxia, infants of diabetic mother etc.). Recognition and early treatment is prioritary to avoid neurological morbidity related with recurrent hypoglycemia.Objective: Describe the incidence of transient hyperinsulinism. Clinical charac...

Introduction: In the last years, the prevalence of high blood pressure (HBP) has increased in children, contributing to raise the risk of future cardiovascular disease. It is known that family history, pregnancy characteristics and type of feeding in the first months of life are of great importance in the prevention of diseases in the offspring. In this study we aimed to investigate the association between early life risk factors and HBP in children and adolescents.<p clas...

Background: We recently reported three children with severe isolated growth hormone (GH) deficiency and pituitary hypoplasia due to biallelic mutations in the RNPC3 gene, which codes for a minor spliceosome protein required for U11/U12 small nuclear ribonucleoprotein formation and splicing of U12-type introns. Although it is clear that these patients are GH deficient, the underlying mechanism for this deficit is not totally understood.Objective:...

Background: Transsexuality during childhood/adolescence is a complex condition usually ending in dysphoria (GD). The prevalence of transgenderism is increasing in Pediatrics. In the process of sexual reassignment, a correct pharmacological treatment and the knowledge of possible consequences are necessary.Objetive: The objective of this study is to present the evolution of the physical and analytical characteristics and side effects in Transgender childr...

Background: Studies aimed at elucidating the pathophysiology of obesity consistently describe it as a highly heterogeneous disorder at both clinical and molecular level. Despite rare monogenic forms and several regions of susceptibility have been defined, the genetic causes underlying the disease remain largely unknown.Objective and hypotheses: We aimed to identify novel genetic abnormalities in a cohort of Spanish children with severe non-syndromic earl...