ESPE Abstracts

Background: 46XY DSD with female phenotype is classified as complete gonadal dysgenesis (46XY CGD) if a uterus is present or a disorder of androgen synthesis or action if a uterus is absent. The genetic causes of 46XY CGD are not fully clarified. Less than 15% of the cases were found to carry mutations of the sex determining region Y gene (SRY).Purpose: The description of the rare case of two sisters affected of 46XY CPD and gonadoblastoma with SRY mutat...

Background: Telomeres are specialized nucleoprotein structures located at the ends of chromosomes playing a crucial role in genomic stability. They consist of tandem repeats of the noncoding hexameric TTAGGG sequence. Telomere shortening has been associated with cardiovascular disease, hypertension, type 2 diabetes, atherosclerosis, coronary heart disease and stroke, and has been proposed as a biomarker for ageing and a prognostic factor for age-associated diseases.<p clas...

The current lifestyle, with a diet increasingly removed from the Mediterranean diet, together with the habitual sedentary lifestyle, is associated with many of the so-called non-communicable diseases, such as the metabolic syndrome. Every day these pathologies are more frequent in pediatrics, so this study has tried to establish the prevalence of metabolic syndrome and its components in overweight and obese children and assess its impact. METHODS A descriptive study has been c...

Objective: To evaluate growth in patients with classical CAH.Patients and methods: Retrospective, longitudinal and multicentric study of patients with classical CAH due to 21-hydroxylase deficiency who had achieved adult height(AH).Excluded: boys with simple virilising forms(SV)>1-year at diagnosis. Normative Control Group:Millennials Longitudinal Growth Study(2018). According t...

Introduction: CFTR-modulating therapy aims to restore CFTR function. It improves lung function and quality of life in CF patients however, its effects on glucose metabolism are not yet well defined.Methodology: Retrospective and longitudinal study.Inclusion criteria: patients with CF genetic diagnosis ≥10 years old on modulator therapy (ivacaftor + lumacaftor or ivacaftor + teza...

Introduction: Type 5 monogenic diabetes is an autosomal dominant disease due to a mutation in HNF1beta gene. This gene is expressed predominantly in kidney and pancreas, thus clinical manifestations are characterised by renal abnormalities and diabetes.Objectives: To review the clinical characteristics of patients who were diagnosed with type 5 monogenic diabetes in the Pediatric Endocrinology Unit of a tertiary referral hospital.<p class="a...

Hyperinsulinism is a common cause of severe and persistent hypoglycaemia during the neonatal period. Eleven genes have been identified that lead to unregulated insulin secretion and hyperinsulinemic hypoglycaemia (HH). Inactivating mutations in UCP2 gene have been described in a very small number of patients with HH. UCP2 protein is an inner mitochondrial carrier protein and its loss of function causes enhanced glucose oxidation and increased intracellular ATP synthes...

Hyperinsulinemic hypoglycaemia (HH) is a common cause of severe and persistent hypoglycaemia during the neonatal period. Risk factors for neonatal transient hyperinsulinism are small-for-gestational age (SGA), perinatal asphyxia and maternal diabetes mellitus. This state of hyperinsulinism in SGA newborns could persist from weeks to years, resulting in an important comorbidity; its pathogenesis remains unknown.Objective: To describe the clinical-genetic ...

Introduction: Idiopathic intracranial hypertension (IIH) is a rare entity in childhood. It is characterized by signs and symptoms of increased intracranial pressure with normal neurological examination (except for possible paresis of the sixth cranial nerve), cerebrospinal fluid study and neuroimaging. The association between HII and treatment with growth hormone (GH) was first described in 1993 by the Food and Drug Administration and it has later been demonstrated. Incidence ...

Introduction: Central precocious puberty (CPP) at a very early age is usually caused by an organic lesion. The most common organic cause of CCP is the hypothalamic hamartoma (HH), which, associated with polysyndactyly, cleft palate and gelastic crises, clinically suggests the diagnosis of Pallister Hall Syndrome.Case: Infant 3-month-old woman with no family history. Polydactyly in hands and feet is evident from the second trimester of pregnancy. Born at ...