ESPE Abstracts

Background: Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) is a rare genetic condition caused by de novo mutations in the KAT6B gene, which encodes lysine acetyltransferase 6B, an enzyme involved in chromatin modification. The clinical phenotype is characterized by global developmental delay and multiple congenital abnormalities, including a number of distinctive facial features (ptosis, blepharophimosis, and mask-like appearance), skeletal involvement (...

Background: Thyroid nodules in children are less common than in adult but are about two-to three-fold at risk of being malignant compared to adults. Plummer's adenoma is a very rare occurrence in pediatrics; there is no literature evidence of this diagnosis in Prader-Willi Syndrome (PWS).Case Presentation: A 9-year-old boy, followed at our Pediatric Endocrinology Outpatients Clinic for PWS (maternal uniparental diso...

Introduction: Non-nutritional rickets forms are often unrecognized. A late diagnosis could negatively affect the outcome. The aimof this study is to identify peculiar clinical and biochemical signs at the onset of non-nutritional rickets to promote early diagnosis.Materials and Methods: A retrospective monocentric observational study was conducted on a sample of outpatients consecutively evaluated at the pediatric endocr...