ESPE Abstracts

Introduction: Homozygous loss-of-function mutations of the growth hormone receptor (GHR) gene result in GH insensitivity due to a dysfunctional receptor protein. Heterozygous mutations may result in a variable clinical spectrum ranging from normal height to severe short stature. Gain-of-function variants have been reported rarely.Case Report: We hereby report the case of a Russian boy who was referred to our endocrine o...

Background: Acute lymphoblastic leukemia (ALL) is the most frequently reported cancer in paediatrics. Reduced bone mineral density (BMD) and increased risk of fractures have been well-documented in this population, but long-term longitudinal trendlines of BMD and data about the impact of bone turnover markers are still scarce. Additionally, changes in body composition have to be furtherly analysed among childhood ALL survivors.St...

Introduction: Among girls assessed for pubertal precocity, pelvic ultrasound (pUS) may represent a pivotal tool to predict the time expected to elapse between sonographic assessment and the onset of menarche (TUS-M). Accordingly, the present analysis is meant to define the statistical relationship between sonographic parameters and TUS-M, in order to identify the most reliable predictor of the timing of menarche.<st...