ESPE Abstracts

Background: Abnormalities in the hypothalamo-pituitary-gonadal axis have been reported in Noonan syndrome (NS) males but few data are available in female patients. Objective: The aim of this retrospective study was to evaluate the gonadal function of female patients with NS and to look for genotype-phenotype correlations. Patients and Methods: The study population included 19 girls/adolescents with a genetically confirmed diagnosis of NS and with available cli...

Background: Prader–Willi syndrome (PWS) is characterized by a switch in early childhood from failure to thrive to excessive weight gain and hyperphagia with impaired satiety. The underlying mechanism for this switch may involve hyperghrelinemia, but only poor data exists regarding levels of acylated ghrelin (AG), unacylated ghrelin (UAG), and the AG/UAG ratio in PWS.Objective and hypotheses: To investigate plasma levels of AG and UAG in PWS, compare...

Introduction: The neuropeptide oxytocin (OT) plays an important role in modulating behaviour and social interactions. Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder due to abnormal hypothalamic development including OT dysfunction that involves endocrine, nutritional and behavioural outcomes/features/trajectory. We previously showed in a phase I/II study (NCT02205034) that 18 infants with PWS, less than 6 months of age, who received ...

Objective: The aim of this study was to evaluate the difference between the incidence of hypoglycemia in those preterm newborns who were exposed to steroids and those who were not.Methodology: This is a prospective cohort study of preterm infants born between 2017 and 2018 at a gestational age of 26 to 34 6/7 weeks in the Hospital Universitario de Santander- HUS- in Bucaramanga, Colombia.Results: 128 preterm infants were e...

Background: Monitoring of thyroid function in neonates born from mothers affected by autoinmune thyroid disease is not perfectly established. The influence of etiology of maternal disease, maternal thyroid peroxidase antibodies (TPOAb) and l-thyroxine therapy during pregnancy on neonatal thyroid function were also investigated.Method: 194 term neonates were tested for thyroid function by measurement of free thyroxine (FT4</s...

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: Magnetic resonance imaging (MRI) of the hypothalamic-pituitary area is extremely useful in the investigation of patients with central diabetes insipidus (CDI) due to infiltrative processes.Objective: We aimed to associate pituitary stalk thickness with the etiology of CDI and hormone deficiencies.Method: A retrospective single-center study of 15 patients (four boys and 11 girls) with CDI was performed and clinical-epide...

Introduction: Glucose sensors are medical devices used in glycaemic control of patients with type 1 diabetes (T1D) . Its use prevents multiple capillary measurements, improving disease control and quality of life. However, these systems are not exempt from unforeseen events. The rise in the number of users has resulted in the increasing detection of local skin reactions by these devices, being the most frequent the eczematous ones, which may correspond to irri...

Background: IGF1 resistance syndrome (IGF1RS) is characterized by intrauterine and postnatal growth deficit with normal or supranormal IGF1 levels. Additional features may include intellectual deficit, microcephaly and dysmorphisms. IGF1RS may be caused by genomic or genetic defects affecting the IGF1R locus (15q26.3).Objective and hypotheses: To investigate the frequency of IGF1R mutations in a cohort of patients with pre- and/or postn...

Introduction: In children with classical congenital adrenal hyperplasia(CCAH) linear growth allows monitoring metabolic control. Precocious puberty could compromise their growth. There are few studies in patients with CCAH diagnosed by neonatal screening(NS) about this subject.Aims: To analyze linear growth and precocious puberty in children with CCAH detected by NS.Method: Thirty-...