ESPE Abstracts

Background: Dual-specificity tyrosine phosphorylation-regulated kinase 1B (DYRK1B) is a nutrient-sensing protein that suppresses the RAS–RAF–MEK pathway and is known to have a role in glucose uptake and glycolysis. The expression of DYRK1B increases during adipogenic differentiation suggesting an important role in adipogenesis. Mutations in DYRK1B have been described in three Iranian families and five Caucasian patients w...

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...

Skeletal dysplasias are conditions in which there is an abnormality of bone and/or cartilage growth, which may show phenotypic evolution throughout life. They are genetically and radiologically heterogeneous, with accurate diagnosis requiring careful correlation of clinical, genetic and radiological information. Presentation may be with unexplained short stature, and this, in the presence of disproportion is the most common indication for a skeletal survey within paediatric en...

Abnormal bone development is commonly seen in children with chronic disease. However, fragility fractures in the young individual may be less common compared to older adults, which may be due to under recognition. The underlying chronic condition and medication can impact on bone turnover, modelling, bone mineral homeostasis, growth, pubertal development and muscle mass. The diagnosis and management of osteoporosis in children and adolescents with chronic disease remains conte...

Background: Laparoscopic sleeve gastrectomy (LSG) has been established as a safe and effective bariatric procedure during adolescence, but its long-term results remain uncertain. Our aim was to report and compare the short- and long-term outcomes of LSG in adolescents.Methods: We performed a retrospective analysis of patients submitted to LSG between 2010 and 2013 in our Institution. Baseline, short-term (1 year) and lon...

Background: DLK1 or PREF1 is an imprinted gene highly expressed from the paternal allele in embryonic tissues and placenta. It has been recently implicated in adipose tissue expansion and diabetes development. The human rs1802710 polymorphism (SNP) in DLK1 gene has been associated with early-onset extreme obesity but its role determining growth is unknown.Objective and hypotheses: To study the preferential paternal transmission...

Introduction: Cystic fibrosis related diabetes (CFRD) is associated with a poorer nutritional status, respiratory function and an increase in mortality rate. Screening is recommended from age 10; however, prediabetic conditions are diagnosed earlier.Objectives: 1) To characterize the degree of carbohydrate metabolism impairment (CMI) in 50 CF patients. 2) To explore the association with clinical parameters as eventual predictors of these conditions.<...

Background and objective: Children with Thickened pituitary stalk (TPS) and/or Idiopathic central diabetes insipidus (ICDI) present to different (endocrine, oncology, and ophthalmology) specialists. Their rarity, absence of agreed radiological criteria or consensus guidance, make their management problematic. Biopsy is too dangerous and cases may remain undiagnosed or evolve over decades. We aimed: i) to longitudinally characterize a large childhood cohort presenting with TPS ...

Background: Beckwith–Wiedemann Syndrome (BWS) is a clinical and genetically heterogeneous entity encompassing overgrowth and variable manifestations. Early diagnosis of BWS is crucial due to the increased risk for developing embryonal malignancies (mainly below 5 years of age).Objective: We aimed to screen the presence of underdiagnosed BWS among ‘non-syndromic’ obese children.Method: We studied 159 children (95 male...

Background: Pituitary stalk interruption syndrome (PSIS) is characterized by the absence of the pituitary stalk, pituitary hypoplasia and an ectopic posterior pituitary.Objective: We aimed to retrospectively analyze the clinical, auxological, biochemical, and radiological findings in Spanish patients with PSIS.Patients and results: Of 27 patients, 25% were female and 75% male. Perinatal features, auxological and endocrine study at ...