ESPE Abstracts

Background/objective and hypotheses: Chest circumference (CC) is related to intrauterine growth rate as well as to development-function of respiratory system. We evaluated the relevance of birth body weight (BW) in birth CC (BC) relations to blood serum IGF1 after control for preterm birth (PTB), oxygen (O2) supplementation as %O2 in respiratory gases (O2R) and assisted ventilation of any kind (AV) in the newborn (NWB) without life-threatening ...

Background: To demonstrate the etiology of 46, XX sex reversal by investigating the clinical feature and its relationships with chromosomal karyotype and the SRY (sex-determining region Y) gene.Methods: A child with genital ambiguity with hypospadias and bifid scrotum consulted to our endocrine OPD for further management. Clinical data was noted, and Karyotype analysis of G-banding in lymphocytes and Fluorescence in situ hybridization (FISH) wer...

Introduction: Children with Small for Gestational Age (SGA) are known to have lower neurocognitive development and an increased in cardiovascular risk in adulthood. 10% of SGA don´t usually do the catch-up and if they meet criteria they have indication to follow Growth Hormone (GH) treatment.Objectives: To establish the difference between SGA diagnosed children who did or did not catch-up (treated with GH), in terms...

Background: Monitoring adherence to growth hormone (GH) treatment is important, because poor adherence can lead to suboptimal clinical outcomes. The easypod™ electromechanical injection device in combination with the web-based easypod™ connect platform electronically records and transmits accurate, objective records of the date, time and dose injected of patients receiving GH with growth disorders, allowing physicians to accurately monitor patients&#...

Background: In the vast majority of cases, achondroplasia and hypochondroplasia are attributable to hotspot missense mutations in the FGFR3 gene. 96% of patients have a G(1138)A and 3% have a G(1138)C point mutation. We report on a family whose members have a deep intronic mutation that leads to a novel cryptic splicing variant of the FGFR3 gene, and via this pathway results in new pathogenicity manifesting as achondroplasia.Case...

Hypophosphatasia (HPP) is a rare, inherited, systemic disease characterized by deficient tissue-nonspecific alkaline phosphatase activity. Common manifestations in children include impaired skeletal mineralization, short stature, and reduced physical function. Asfotase alfa is an enzyme replacement therapy approved for treatment of patients of any age with pediatric-onset HPP. The utility of dual X-ray absorptiometry (DXA) as a diagnostic tool or measure of treatment effective...

Objective: to evaluate clinical and laboratory characteristics of various types of gonadal dysgenesis in girls with hypergonadotropic hypogonadism.Methods: 17 girls with hypergonadotropic hypogonadism (13.9±3.72) were examined. Inclusion criteria: characteristics of delayed puberty, no disorders of sex development, presence of müllerian duct derivatives, high levels of gonadotrophins. Tanner stage, antropometri...

Objective: To study clinical and laboratory characteristics of patients with disorders of sex development (DSD) 45,X/46,XY and 46,XY, partial gonadal dysgenesis.Subjects and Methods: It was included 27 patients with disorders of gonadal dysgenesis at birth to 9 years, which were divided into groups based on cytogenetic survey – DSD 46,XY, partial gonadal dysgenesis (n=10) and DSD 45,X/46,XY (n&...

Background: Osteoporosis is a complex disorder, influenced by both environmental and genetic factors. Primary osteoporosis is a rare early onset disorder with high morbidity and mortality. Wnt signaling pathway has been shown to be involved in the regulation of bone remodeling.Case: Native Argentinean boy born from a consanguineous family with history of retinal detachment in the maternal line. Delivered at term, birth weight 2900 g (−0.95 SDS), bi...

Background: GH treatment for ISS received first approval in the USA in 2003 based on data from two controlled clinical trials. Eligibility is restricted to those with baseline (BL) height standard deviation score (HtSDS) ≤−2.25; other approvals followed, but not in Europe.Objective and hypotheses: To assess outcomes of GH therapy in a large cohort of patients (pts) treated in routine clinical practice.Methods: Short-ter...