ESPE Abstracts

Background: Most reports on gonadotoxicity associated with chemotherapy of acute lymphoblastic leukemia (ALL) comes from studies in adults, and they are mainly focused on the sensitivity of testicular germ cells. Little attention has been placed on Sertoli cells in prepubertal patients, even though Sertoli cell function is essential for adult spermatogenesis.Objective: To evaluate Sertoli cell function in prepubertal boys who receive chemotherapy for ALL...

Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in neonates, infants, and children, and is caused by genetic mutations in pancreatic beta-cells. Current therapies are burdensome, have limited efficacy, and are associated with significant morbidity. CRN04777 is a potent, orally-bioavailable, selective SST5 agonist that suppresses insulin secretion in the terminal steps of the insulin secretion pathway and could be useful for patients with con...

Background: Hyperphosphatemic familial tumoral calcinosis (HFTC) is a condition characterized by hyperphosphatemia and abnormal deposit of phosphate and calcium most often around the hips, shoulders and elbows and rarely in the brain.Case presentation: A four-year-old-girl from Arabian origin was referred to the regional paediatric endocrine clinic from the Orthopedics Team due to: recurrent calcinosis of the right calcaneus and incipient left wrist pain...

Introduction: The highest prevalence of children and adolescents with obesity in Europe is observed in the south countries. This epidemic is related to unhealthy eating patterns, decreased physical activity and increased inactivity.Objective: To determine the relationship between adiposity degree and physical activity and inactivity in children and adolescents.Methods: 338 children from 6 to 8 years of age (x=11.11 years);...

Background: It is well known that ingestion of a high fat diet (HFD) can induce rapid weight gain and metabolic imbalances. However, males and females are not equally susceptible to these effects. Furthermore, an individual may be more prone to gain weight during specific developmental periods.Aims and objectives: We aimed to analyse the response to the acute exposure to a HFD during pubertal/adolescent period and to determine whether males and females r...

Up to 50% of children born SGA at 2 years have not made a correct catch up (by excess or defect), with repercussions on size, metabolic and cardiovascular alterations, DM, etc. The Project has developed a prospective cohort of SGA and seeks to study phenotypic, BQ and genetic differences that explain their different behavior.Material and methods: We study live births of single pregnancies in our Hospital during 2012–2014, and are classified accordin...

Background: The human microbiota has emerged as an unexpected modulator of the immune system. The placenta, long thought to be sterile, harbors a unique microbiome and variations in their composition could be related to prevent pregnancy disorders.Objective and hypotheses: To profile the placental microbiota (microorganisms) and microbiome (collection of microbial genomes in an environment) in women with gestational diabetes (GDM) and study their relatio...

Background: The inheritable component of familial Papillary Thyroid Cancer (fPTC) was recently attributed to monogenic defects in a reduced number of genes including DICER1. DICER1 codes for a ribonuclease of the RNaseIII family essential for the biogenesis of microRNAs.Objective and hypotheses: We aimed to identify germline and/or somatic mutations in DICER1 in a familial pedigree with PTC, multinodular goiter (MNG) and other ...

Background: Gonadal function is altered up to 25% in patients who suffered cancer in childhood. Cryopreservation of ovarian tissue (COT) is an option for preserving fertility.Aims and objective: To establish the prevalence of primary hypogonadism (PH) in children with cancer after hematopoietic cell transplantation (HCT). To analyse the variables that predict progression to PH.Methods: Retrospective cohort study. Patients aged 0 to...

Background: The presence of a thyroid nodule (TN) is a rare clinical condition during childhood and adolescence. In children, classically was considered malignant and total thyroidectomy was recommended whenever a TN was detected or in the case of cold nodules. There are not long time series in children, but recent clinical guidelines recommend an initial management as in adults.Objective and hypotheses: Review TN in children in our area.<p class="ab...