ESPE Abstracts

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...

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 ...

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: 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...

Background: Pediatric Cushings syndrome is a rare condition and its diagnosis is always a challenge to the clinicians. The hypercortisolism can be classified as ACTH-dependent (Cushings disease) and ACTH-independent. The latter group comprises several hereditary conditions. One of them is primary pigmented nodular adrenocortical disease (PPNAD) which occurs isolated or as part of Carney complex (CNC). It is known that adult patients with Cushings syndrome due PPNAD exhibited a...

Background: GH (rhGH) treatment improves adult height in GH deficient (GHD) patients. However, there are differences in short and long term responses to treatment between children with permanent deficit (PDGH) and those who present a transient deficit (TDGH) when reassessed at final height (FH).Objective and hypotheses: To evaluate the response to rhGH treatment in patients with PDGH or TDGH one year after initiating treatment and at FH when treatment wa...

Background: A second screening for congenital hypothyroidism between the 2nd and the 4th weeks of life in preterm infants is recommended in order to avoid false negative on the first screening. The incidence of transient hypothyroidism in this population is high.Objective and hypotheses: i) Analyse the utility of the second screening in our population of preterm infants. ii) Follow-up of those preterm infants with hypothyroidism.Me...

Introduction: Pituitary imaging is important for the evaluation of hypothalamo-pituitary axis defects in patients diagnosed with childhood-onset growth hormone deficiency (CO-GHD). Published evidence shows that there is a close relationship between structural changes in the pituitary gland and growth hormone deficiency.Aim: To evaluate the relationship between clinical, laboratory and magnetic resonance imaging of the pi...

Introduction: Fanconi anemia (FA) is a rare genetic disease that presents with aplastic anemia. Around 60% have short stature (SST), with a mean height of -2.2 SD. However, studies assessing the etiology of SST not having reached relevant conclusions.Aim: Our aim was to evaluate the clinical features and endocrine status in relationship to SST in patients with FA.Methods and Patients: A cross-secti...

Background: Thyroid dysfunction is a common condition in children and has been associated with metabolic syndrome, hypertension, cardiovascular disease and mortality. Due to the obesity epidemic in paediatric population exists a higher prevalence of nonalcoholic fatty liver disease (NAFLD), a condition associated with insulin resistance and metabolic syndrome. In adults it has been observed that elevated TSH, even within the normal range, are positively correlated with increas...