ESPE Abstracts

Backround: Craniopharingiomas are rare embryogenic malformations of the sellar and parasellar region with slow growth and high local recurrence rate. Due to their unfavorauble location, presurgical hypothalamic involvement and treatment-related hypothalamic damage is frequent and lead to hypothalamic syndrome.Objective: we compare weigh gain and growth pattern regarding to hypothalamic involvement of pediatric patients a...

Background: Hypospadias is a common characteristic of Disorders of Sex Development (DSD). At the present time a molecular diagnosis is not reached in over 50% of cases. The DDD Study represents a useful resource of large molecular and phenotypic datasets obtained from individuals with an undiagnosed developmental abnormality including DSD.Objective: To review associated features and identify likely pathogenic variants in previously undiagnosed DDD partic...

Background: Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder involving a predisposition to tumor development, etiologically connected with genetic/epigenetic dysregulation. The main features of BWS include omphalocele, macroglossia and macrosomia; however there is significant clinical heterogeneity. SHOX mutation is a frequent cause of short stature with high penetrance, but extremely variable clinical expression. The mean adult height is -2.2 SDS. The presence of m...

Background: Short stature is a main feature of Noonan syndrome (NS). Although rhGH is commonly used in NS patients, it is not known whether a defect in the secretion of GH influences the response to rhGH therapy.Objective and hypotheses: The aim of this study was to evaluate the efficacy and safety of rhGH treatment in NS patients, according to the presence of GH deficiency at the baseline.Method: We retrospectively collected data ...

Background: Collaborative project to review the phenotypic and genotypic data from children recruited to the UK wide deciphering developmental disorders (DDD) study.Objective and hypotheses: To report the frequency and range of disorders of sex development (DSD) phenotypes observed in DDD participants who have one or more associated ‘neurodevelopmental delay’ diagnostic human phenotype ontology (HPO) term.Method: Retrospe...

Background: Thyroid disorders (subclinical hypothyroidism and structural abnormalities) are common in Williams syndrome (WS) patients.Objective and hypotheses: Central hypothyroidism and GH deficiency (GHD) in a WS patient are discussed.Method: Case report and literature review.Results: A 5-month-old male was admitted to our hospital because of growth failure since the 3rd month, mild dysmorphisms, micropenis...

Background: Human IGF1 gene defects are characterized by intrauterine and postnatal growth retardation, sensorineural deafness, microcephaly and intellectual disability. Seven cases have been reported so far, and the underlying pathophysiology has been characterized in only three.Objective: To describe a patient with severe short stature presenting a novel homozygous IGF1 gene mutation and its underlying pathogenic mechanism.<p clas...

Background: Emerging evidence suggests a link between the intestinal microbiota and cardiometabolic outcomes in both children and adults. The oral microbiota is less studied, and the association between the oral microbiota and cardiometabolic health in childhood remains largely unknown.Objective: To explore the associations between oral microbiota diversity measured at 8-10 yr and cardiometabolic health in childhood and ...

Background: Oral microbiota composition and diversity differ between obese and non-obese individuals. However, the associations between lifestyle habits (implicated in the pathogenesis of obesity) and the oral microbiota remain uncertain, particularly among children.Objective: To explore the associations between oral microbiota diversity and lifestyle habits among 8-10 year-old children.Met...

Background and aim: Subjects with Turner Syndrome (TS) show low cortical bone mineral density (BMD), osteoporosis and risk of fractures. Previously, we demonstrated the enhanced spontaneous osteoclastogenesis in girls and young women with TS before and after pubertal induction with hormonal replacement therapy (HRT). The bone resorption observed in girls before puberty induction seems to be supported by the high FSH serum levels observed at prepubertal stage, while in young wo...