Endocrine Abstracts

Introduction: X-linked hypophosphatemic rickets (XLH) is a very rare cause of growth deficiency that can be diagnosed even in adulthood. The mutation of the PHEX gene in these patients causes higher levels of FGF-23 and hypophosphatemia.Case presentation: A 20-year-old male patient was admitted into our clinic due to short stature, walking difficulties, joint and muscle pain, predominantly in the lower limbs. He described the presence of symptoms since c...