ESPE Abstracts

Background: Development of cystic fibrosis–related diabetes (CFRD) is associated with worse pulmonary function, poorer nutritional status, more chest infections and increased mortality. In cystic fibrosis (CF) patients, abnormality of the 1 hour glucose during Glucose Tolerance test (GTT) is reported to be a better predictor of early CFRD and is associated with decline in pulmonary function compared to the 2-hour glucose level during GTT. We report a case series of 4 pati...

Deletions at 16p11.2 have been reported to be associated with obesity, intellectual disability and various malformations. There are variations in phenotypes associated with deletions of different sizes in this region. Some deletions encompass the SH2B1 gene encoding an adaptor protein involved in leptin and insulin signalling which is believed to be causal for the early-onset obesity of these patients who in addition show a developmental delay (see patient 1). Deletio...

Background: Functional studies on uncoupling protein 1 (UCP1) are important to identify potential pharmacological targets which interfere with energy metabolism. However, current cell models of human origin are scarce due to limited tissue availability. In this study, we generated human preadipocytes and adipocytes with an overexpression of UCP1 and studied the metabolic function of these cells.Methods: Human Simpson-Golabi-Behmel syndrome (SGBS) cells w...

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 ...

Background: Hypothalamic hamartomas(HH) are rare heterotopic congenital malformations causing central precocious puberty(CPP) and/or resistant epilepsy whose natural history is unknown.Aim: To describe clinical and imaging features, and the risk of developing endocrine deficits, particularly after surgery.Method: Retrospective case note and imaging review of all HH diagnosed by MRI between 30.08.1991 and 24.11.17, analysed by initi...

Objective: To describe six cases of possible partial ectopic posterior pituitary gland (PEPP) seen on head magnetic resonance imaging (MRI) and their associated clinical and endocrinological manifestations.Methods: This is a single-center case series, from a tertiary public university health center in Montreal, Canada. Cases of children with possible PEPP were selected prospectively from 2005 to 2017, based on head MRI findings. Medical history, exam fi...

Background: Pheochromocytoma is an uncommon tumor, producer of Catecholamines and causing hypertension in childhood. It is associated to genetic alterations, generally related with RET gene disorders.Method: We present the case of a unilateral familial isolated pheochromocytoma, present in father and son, carriers of a heterozygous mutation in the VHL gene (c.235C > G; p.R79G).Case: Male, 9 years-old with history of fever, prof...

Background: Fear of hypoglycemia is a major constraint on achieving a good metabolic control in T1D. Sensor augmented insulin pump therapy with threshold-suspended features (MiniMed 640G-SG) might alleviate burden of hypoglucemia and improve outcomes.Objective and hypotheses: Evaluate the effectiveness of this system to prevent day and night hypoglycemia and its impact on HbA1c in a pediatric population with T1D.Method: Descriptive...

Background: T1DM incidence in children varies across regions and countries, showing a continue rise Worldwide.Objective and hypotheses: To determine the incidence of T1D in Chilean children under 20 years between 2006 and 2012.Method: We reviewed mandatory notifications of T1D (GES Program) in Chile’s public health system in population younger than 20 years between 2006 and 2014. Data were obtained from the Department of Infor...

Background: There is limited knowledge in children younger than 6 years of age about the safety and efficacy of CSII treatment during long periods of time.Objective and hypotheses: Evaluate the efficacy and safety of CSII treatment in pre-schoolers with T1D, assess if ISPAD/ADA criteria for good metabolic control are achieved and define general and specific characteristics of the treatment in this range of age.Method: Charts of pat...