ESPE Abstracts

Objective: Hereditary hypophosphatemic rickets is a rare renal phosphate wasting disorder causing burden on pediatric patients despite conventional treatment of phosphate and calcitriol. The aim of this study is to analyze genetic and clinical variability of children with X-linked hypophosphatemic rickets (XLHR), focusing on short term, long term and pubertal impact of conventional treatment. Design: Retrospective cohort studyMet...

Introduction: Costello syndrome is a rare RASopathy that is associated with such characteristics as prenatal overgrowth, postnatal growth retardation, mental-motor retardation, coarse face appearance, loose skin on the neck, hands and feet, cardiovascular abnormalities, deep palmar and plantar lines and a predisposition to various types of cancer. Several endocrine disorders, including growth hormone deficiency, adrenal failure, glucose intolerance, hyperprolactinemia and hypo...