ESPE Abstracts

Introduction: Hypoglycemia is a significant cause of morbidity in children, yet is challenging to diagnose and treat due to its heterogeneity.Aim: To describe the diagnoses and clinical characteristics of children with hypoglycemia referred to a tertiary pediatric center.Methods: This retrospective study included 155 children (86 males, aged 0-18 years) diagnosed with hypoglycemia ...

Background: Hypoglycemia etiology in children is heterogeneous and varies by age. Both growth hormone (GH) and cortisol deficiencies may present with hypoglycemia; the latter may result in an adrenal crisis that may be fatal.Objectives: To evaluate responses of cortisol and GH to spontaneous hypoglycemia in infants and children, and to assess the rate of true cortisol deficiency in children, defined as cortisol<500 nm...

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...

Introduction: Hyperglycemia is a common event in neonates, frequently associated with specific clinical conditions (sepsis, drugs or intravenous fluids) other than neonatal diabetes. Unusual endocrino-metabolic syndromes must be considered whenever initial studies are inconclusive.Case report: Newborn term female was admitted at the NICU for intrauterine growth restriction with fluxometric changes and low birth weight (1710 g). Gestational history includ...

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 ...