ESPE Abstracts

Introduction: Neurofibromatosis type 1 (NF1) is an autosomal dominant condition, caused by genetic mutation of NF1 gene in chromosome 17q11.2, with a worldwide incidence of approximately 1 in 3000 people. It is caused by de novo mutation, in about 50%. This is a multisystemic disease, presenting with café-au-lait spots, axillary freckling, skeletal dysplasia and neural crest tumors (benign neurofibromas usually). Autoimmune disease associated with NF1 c...

Objective: This case report emphasizes the significance of early clinical examination in a pediatric endocrinology clinic for the diagnosis of Williams-Beuren Syndrome (WBS). WBS is a rare genetic disorder typically caused by a deletion in the chromosomal region 7q11.23. This deletion results in the loss of 25-27 genes, including the elastin gene. It is characterized by growth delay, mild intellectual disability, behavioral issues, cardiac diseases (mainly sup...

Objective: Children who are small for gestational age (SGA) and do not exhibit compensatory growth by the age of 4 years have been shown to benefit in their final height from growth hormone (GH) therapy. The GH-IGF1 axis stimulates physical growth, regulates metabolism and cardiovascular functions. Only one case of a child with GH deficiency presenting with atrioventricular (AV) block during GH therapy has been reported to date. Here, we describe the occurrenc...