ESPE Abstracts

In a randomized open-label phase 3 trial in 62 children (1–12 years) with X-linked hypophosphatemia (XLH) (NCT 02915705), switching from conventional therapy (oral phosphate plus active vitamin D) to burosumab, a monoclonal antibody targeting fibroblast growth factor 23, significantly improved serum phosphate concentration, rickets, lower-extremity deformities, growth, mobility, and patient-reported outcomes (PROs) at 64 weeks. Children in Europe, USA, Canada, and Australia wh...

Background: Congenital central hypothyroidism (CeH) may occur isolated, or in combination with other pituitary hormone deficiencies. Although a third causative gene for CeH was recently reported (IGSF1), the aetiology of isolated CeH has remained unexplained in most cases.Objective and hypotheses: We hypothesized that in three relatives with unexplained isolated CeH a mutation in another gene might be responsible for the phenotype.<p class="...

Background: Despite a shining sun all through the year, vitamin D deficiency is still prevalent in Egyptian children which suggests a relative resistance to vitamin D in Egyptian population.Aim: To assess 25(OH)D status in healthy pre-pubertal Egyptian children and to relate its levels to anthropometric parameters in these children.Methods: Sixty healthy children aged between 3 and 10 years coming to the Outpatient clinic, Children...

Background: Vitamin D deficiency has a high prevalence in children. It is produced by the skin from exposure to sunlight but its synthesis is influenced by many external and internal factors.Objective and hypotheses: The study aims to evaluate vitamin D in children with different pathology and highlights the influencing factors of it.Method: We evaluate 25-hydroxyvitamin D levels in 84 patients, sex ratio 1.15:1, aged between 3 mon...

Objectives: Vosoritide is a C-type natriuretic peptide analog which binds its receptor on chondrocytes, leading to increased chondrocyte proliferation and differentiation via its inhibition of the ERK1/2-MAPK pathway. It was recently approved for increasing linear growth in children with achondroplasia. This is the first study to examine the safety and efficacy of vosoritide in children with hypochondroplasia.Methods: Th...

Introduction: In cases of disorder of sex development (DSD), the change between the gender assigned at birth and the individual's chosen gender identity can occur especially after puberty.Aim: was to determine the relationship between genetic sex, gender assigned at birth and gender identity, and the importance of molecular diagnosis.Method:154patients older than 14years of ag...

Background and Aims: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. 21-hydroxylase deficiency (21-OHD) caused by mutations in CYP21A2 gene is the most common form of CAH. This study aims to analyze the phenotype-genotype correlation and the characteristics of gene mutation frequency of 21-OHD patients in China, helping to provide evidence for clinical practice and genetic counseling of 21-OHD patie...

Background: Vitamin D deficiency in children is a common cause of rickets, and a potential risk factor for extraskeletal adverse health outcomes. Its prevalence in Haiti has not been assessed.Objective and hypotheses: To examine the prevalence of vitamin D deficiency in dark-skinned young children in Haiti.Method: Cross-sectional study of healthy Haitian children 9 months to 6 years across thr...

Background: Triple A syndrome (alacrima, achalasia, adrenal failure, progressive neurodegenerative disease) is caused by mutations in the AAAS gene which encodes the protein ALADIN. Osteoporosis seems to be an overlooked symptom in triple A syndrome.Objective and hypotheses: To evaluate etiology of osteoporosis in six male and four female patients with triple A syndrome.Method: X-ray, dual X-absorptiometry (DXA) of the lum...

Background: There is increasing evidence of vitamin D deficiency world-wide resulting in nutritional rickets. With increasing use of fast foods and reducing appropriate physical activity. Our world is encountered with the problem of obesity which increases the risk of 25-hyroxy vitamin D deficiency.Objective and hypotheses: The aim of this study was to determine the status of serum 25(OH)D level in children 2–14 years old who visited in a pediatric ...