ESPE Abstracts

Introduction: Fanconi anemia (FA) is a rare genetic disease that presents with aplastic anemia. Around 60% have short stature (SST), with a mean height of -2.2 SD. However, studies assessing the etiology of SST not having reached relevant conclusions.Aim: Our aim was to evaluate the clinical features and endocrine status in relationship to SST in patients with FA.Methods and Patients: A cross-secti...

Introduction: The stanniocalcins (STCs) are inhibitory factors of the growth-promoting effects of IGFs through inactivation of pappalysins that favor the release of IGFs from their binding proteins (IGFBPs). STC1 can be involved in the cellular response to stress and plays an important role in cell cycle regulation. Patients with Fanconi Anemia (FA) are more sensitive to oxidative stress that could alter the expression of STC1. Our aim was to assess whether pa...

Introduction: Fanconi anemia (FA) is a genomic instability syndrome associated with congenital abnormalities. Structural anomalies of the central nervous system (CNS), particularly a small pituitary gland, have been published in a few case series. This has been thought to be the cause of the short stature (SS) observed in FA.Methods: A cross-sectional exploratory study was carried out in pediatric patients at the FA Span...