ESPE Abstracts

Background: Encephalopathy associated with autoimmune thyroid disease (EAATD) is very rare in pediatrics. Contributing factors include: Sudden change is thyroid levels, cerebral vasculitis,endothelial inflammation or immune complex deposition, global cerebral hypoperfusion, as well as cerebral tissue-specific autoimmunity.The case: A 16-year-old female was diagnosed with hyperthyroidism and treated with Radio Iodine Ablation (RIA). Her total T4 level was...

Background: In XLH, high circulating FGF23 causes hypophosphatemia, rickets, and short stature.Objective and hypotheses: To evaluate KRN23 effects on serum phosphate (Pi) level and rickets severity in XLH children in a Phase 2 study.Method: 52 XLH children (ages 5–12 years, ≤Tanner 2) received KRN23 subcutaneously biweekly (Q2W) or monthly (Q4W). Serum Pi was measured at 2-week intervals. KRN23 dose was titrated (maximum...

Background: Obesity is one of the major risk factor for metabolic and cardiovascular disorders, and its global prevalence has increased exponentially in the last decades. Excessive weight gained during early childhood increases long-term risk; however, reversing this condition during early-life reduces risk, improving children’s quality of life.Objective and hypotheses: We hypothesized that a lifestyle intervention in obese prepubertal children woul...

Background: Several pharmaceutical formulations marketed GHRH, were being restricted in their choice occasions. Three display groups: single-dose, pre-filled pens/vials and electronic devices, self-injection systems. The choice may contribute to a greater or lesser adherence and a difference in the final cost of treatment (drug loss), attributable to the device itself or presentation. Presentations that require reconstitution device load, partial doses or stop in Pen contribut...

Background: Up to 50% SGA did not do a proper catch up (for over/under) and may have implications in size, metabolic, cardiovascular. Arises: epiSGA – PreMeb Project. Global approach to study.Objective: Create clinical cohort of SGA for monitoring, assessment catch-up, use GHRH requirements, environmental/social factors and variables influence on clinical, laboratory and metabolic profiles in order to progress in the knowledge of natural history. Pr...

Background: Although the theoretical impact of small in weight and/or size at birth (<2 SDS for EG) is 3–5% (3.5% in the Basque Country (source: Local Government) the socio-economic situation in our country has conditioned a change in its l although 50% at 2 years did not do a proper catch up (by excess or defect) with potential impact on future size and metabolic complications, cardiovascular require specific monitoring.Objective: To assess soc...

Background: The adrenal glands and gonads develop from an area of intermediate mesoderm between 6 and 10 weeks post conception (wpc) in humans. Elucidating the genomic components and pathways in these processes could reveal novel aspects of human developmental biology and new factors implicated in adrenal insufficiency and DSD.Objective and hypotheses: To develop a unique genomic atlas of adrenal and gonad development during critical stages of human embr...

Background: Hypophosphatasia (HPP) is the rare inherited metabolic disorder resulting from loss-of-function mutation(s) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. TNSALP deficiency can cause a spectrum of complications in children including premature deciduous tooth loss, rickets, poor growth, and compromised physical function. We previously reported that children, 5–12 years old, with HPP and treated with asfotase alfa, a recombinant bone-targeted huma...

Background: Hypoxia represents a main risk factor for acquired brain injuries and neurological disabilities in premature and full-term infants. Stabilization of hypoxia-inducible transcription factors (HIF) is one of the most important adaptive mechanism modulating the degree of hypoxic-ischemic brain lesions due to cellular adaptation to reduced oxygen concentrations. Additionally, neuro-protective effects of GH and GH-induced neurotrophic factors are evident as shown by prev...

Background: GH treatment may cause insulin resistance, which is associated with metabolic syndrome and co-morbidities.Objective and hypotheses: The aim of our study was to evaluate GH deficiency (GHD) patients on GH treatment for hyperlipidemia, insulin resistance and carotid intima media thickness (CIMT) and left ventricular global longitudinal strain (GLS) and assess cardiovascular tissue level effects of insulin sensitivity.Meth...