ESPE Abstracts

Background: Turner syndrome (TS) involves a partial or complete loss of an X chromosome. TS patients have an increased susceptibility to various disorders.Objective and hypotheses: To describe the clinical presentation, genotype and follow-up of TS patients controlled in the Pediatric endocrinology department of our hospital.Method: Retrospective study of patients diagnosed with TS at the ‘Navarra Hospital’ between 1980&#...

Background: The central melanocortin system is highly involved in the control of energy metabolism, receiving and integrating numerous metabolic signals, such as leptin, and biallelic mutations in several genes of the pathway have been reported in severe obesity. However, whether and how heterozygous rare sequence variants (hetRSVs) in genes of this satiety pathway contribute to the development of obesity is poorly explored.Objec...

Objective: To study the impact of dual therapy on BMD and Inhibin B in a group of transsexual male adolescents who initiate treatment with advanced pubertal development.Patients and methodology: Retrospective study of 16 male minors who initiated treatment (Triptorelin and later Testosterone) with complete pubertal development. Variables included: age, weight and height at baseline and at the last visit (calculated in SDS for assigned age and sex), BMD i...

Introduction: Primary hyperparathyroidism (PHPT), often caused by a single adenoma (80%–85%) or hyperplasia or adenomas involving multiple glands, is the major cause of hypercalcemia. PHPT is common and occurs in individuals of all ages, but its prevalence is lower in young adults. Parathyroid tumors and PHPT can be caused by germline (hereditary PHPT) or somatic mutations of tumor suppressor genes (e.g., multiple endocrine neoplasia type 1 and CDC73) and...

NASH is an increasingly relevant finding in the pediatric population affected by obesity. In adults, its evolution from this steatosis to fibrosis and its correlation with metabolic syndrome is increasingly significant. The existence of a rapid and validated screening tool in consultation would be very useful.Main objective: To evaluate if the measurement of intraperitoneal fat measured through nutritional ultrasound, allows the diagnosi...

Rationale: Bronchopulmonary dysplasia (BPD) is a common complication after preterm birth that is associated with neurodevelopmental impairment. Neurofilament light chain (NfL) has been identified as a biomarker for neuroaxonal damage in preterm infants, but its relation with BPD has not yet been established. We hypothesized that BPD is associated with increased NfL levels at an early stage, indicative of early neuroaxonal damage....

Introduction: Short stature is a frequent reason for consultation in the paediatric age group. After appropriate clinical, radiological and laboratory evaluation, up to 60-80% of children are classified as idiopathic short stature (ISS) because no underlying cause can be found. Nowadays, the spreading of molecular is revealing that many of the patients initially classified as TBI, have variants in genes involved in the growth plate development. IHH gene is inv...

Background: The increasing incidence of obesity is a serious global public health challenge. Endocrine disrupting chemicals (EDCs) are exogenous chemicals that interfere with the endocrine system, including adipose tissue. Increasing evidence from epidemiological, animal, and in vitro studies shows that EDCs, in particular bisphenol A (BPA) and phthalates (e.g. di-ethyl-hexyl-phthalate, DEHP), can affect body weight, adipogenesis and circulating lipid profile,...

Background: Over the past several decades, the age of pubertal onset in girls has shifted downward worldwide. Several factors including genetic predisposition, psychosocial and socio-economic conditions, diet and ethnicity may have contributed to this phenomenon. Epidemiological and animal studies have shown that the exposure to BPA and DEHP may be associated with early onset of puberty in girls.Objective: To investigate...

Introduction: Hyperinsulinaemic Hypoglycaemia (HH) is one of the commonest causes of hypoglycaemia in infancy. It is characterised by hypoketotic, hypofattyacidaemic and hyperinsulinaemic hypoglycaemia. The molecular basis of HH includes defects in pathways that regulate insulin release; to date, 12 genes have been associated with monogenic forms of HH (ABCC8, KCNJ11, GLUD1, GCK, HADH1, UCP2, MCT1, HNF4A, HNF1A, HK1, PGM1, PMM2). However, no genetic aetiology has been...