ESPE Abstracts

Background: Peutz-Jeghers syndrome (PJS) is a rare autosomal-dominant disorder frequently caused by the serine-threonine-kinase-11(STK11) gene mutation and characterized by hamartomatous polyps throughout the gastrointestinal tract, mucocutaneous hyperpigmentation and predisposition to several malignancies. Rarely, PJS may be associated to an oestrogen producing large cell calcifying Sertoli cell tumour that may result in gynecomastia and increased growth velocity (GV).<p ...

Introduction: Hypoglycemia is the most common acute complication in T1D. It has ominous symptoms and it is potentially fatal. Parents of infants with T1D are instructed in how to avoid, detect and manage these episodes. However, it is well known that many parents develop fear of hypoglycemia (FoH) which may lead to phobic avoidance behaviors such as permanent hyperglycemia and anxiety, losing optimal metabolic control. We aimed to explore how parenting stress ...

The coronavirus disease (COVID-19) pandemic brought with it a state of alarm as of March 14, 2020, which implied a restriction on the mobility of the general population and home confinement. One of the main concerns raised by isolation was the substantial reduction in energy expenditure due to children spending more time sitting or participating in activities that involve very low rates of energy expenditure, such as watching television, managing the different networks social ...

Background: Digital health is becoming increasingly important worldwide. However, there is a lack of research on barriers to the implementation of digital health solutions for growth disorders in the Gulf Region. Participatory research can help to understand barriers faced by different stakeholders, design effective solutions and evaluate their implementation, whilst taking cultural aspects into consideration. Involving clinicians in understanding barriers to ...

Type 1 diabetes (T1DM) in childhood is a highly prevalent disease, with incidence oscillating around 17.6/100000. However, incidence is higher in some communities (25.5/100,000), as it is in the case that concerns us. Diabetic ketoacidosis (DKA) is a complication usually recorded in 25–40% of cases but has been as high as 55% in studies of children under 5 years old. (T1DM) is an associated autoimmune disease to other precursor autoimmune pathologies.<p class="abstext...

Introduction: Growth prediction algorithms (i.e. iGRO), provide an estimate of a patients’ likely growth in the first year, and subsequent years, of GH treatment at a given dose, taking into account the patient’s combination of physical characteristics. Comparing a patient’s actual growth with their predicted growth after the first year of GH treatment, it is possible to determine whether the patient is responding to GH as expected (Index of responsiveness; IoR)...

Background: We present a patient with co-existence of two rare conditions 3β-Hydroxysteroid dehydrogenase type 2 deficiency (HSD3B2) the rarest form of Congenital Adrenal Hyperplasia (CAH) and Bartter’s Syndrome (hypokalaemic alkalosis secondary to hyperaldosteronism).Case Report: A female infant (46XX) born at 34/40 weeks weighing 2.67 kg to non-consanguineous parents presented on day four of life with significant weight loss. Subsequent inves...

Background: Vitamin D is a pleiotropic hormone the deficiency of which is related with extraskeletal manifestations such as insulin resistance and cardiovascular risk disease.Objective and hypotheses: To investigate the levels of VitaminD in a sample of children with obesity and to evaluate the relationship between carbohydrate metabolism and metabolic syndrome (MS).Method: In this prospective cross-sectional study, 189 children ag...

Background: 2015 ATA Guidelines for management of medullary thyroid cancer (MTC) include C634 RET codon mutation in ‘High risk’ group, recomendating prophylactic thryroidectomy before 5 years old based on serum basal calcitonin levels (SBCt).Objective and hypotheses: We present 14 pediatric patients with C634 RET codon mutation, who underwent prophylactic thyroidectomy in our center, their clinical and analytical features and anatomopathologica...

Background: Childhood obesity is a serious public health concern. To identify risk for obesity in early childhood is important.Objective: To analyse association of pre-pregnancy maternal weight with BMI and metabolic profile at 4 years.Methods: 2604 pregnant mothers and 1960 children from the Spanish population-based cohort study Environment and Childhood (INfancia y Medio Ambiente) Project (INMA). Research protocol was approved by...