ESPE Abstracts

Introduction: PWS is a congenital hypothalamic disorder characterized by short stature and obesity due to hyperphagia. Early growth hormone therapy (GHT) has been shown to positively alter the phenotype of the disease and improve final height, BMI, body composition, and metabolic parameters. The aim of this study was to analyze the course of BMI and body composition during the first year after cessation of GHT. Methods: ...

Introduction: With an overall prevalence of 1:200 to 1:1,000, NCCAH due to 21-hydroxylase deficiency is an important cause of premature pubarche in 5 to 20% of cases. Clitoromegaly is present in up to 11% of adolescents with NCCAH but is not regularly reported in infancy and childhood. Affected children may exhibit advanced bone age, rapid linear growth, and tall stature. Genetically, several compound heterozygous mutations of the CYP21A2 gene are known, as we...