ESPE Abstracts

Background: Osteoporosis-pseudoglioma syndrome (OPPG), rare autosomal recessive entity, is characterized by juvenile osteoporosis, bone deformities, neuromotor retardation, and congenital blindness. This syndrome is due to the loss-of-function mutation in LRP5 (Low-density lipoprotein receptor-related protein 5). Here report four cases from three families, with confirmed molecular diagnosis who showed improvement of osteoporosis improved with biphosphonate therapy.<p class...

Introduction: Langerhans cell histiocytosis (LCH) is a rare disease that the clinical presentation can vary from the involvement of a single region to widespread multiorgan involvement. The most common central nervous system infiltration is observed in the hypothalamic-pituitary region, which frequently leads to central diabetes insipidus (CD&Idot;) and occasionally to anterior pituitary hormone deficiencies. There is limited data on endocrinological findings,...