ESPE Abstracts

McCune-Albright Syndrome is a rare genetic disorder characterized by triad of polyostotic fibrous dysplasia of bone, precocious puberty and café au lait skin pigmentation. It is resulted from an activating mutation in the GNAS gene encoding the alpha subunitof stimulatory G protein. Here we present two cases with McCune Albright syndrome presenting with different clinical findings.Case 1: A 7-year and 6 month-old girl presented with breast ...

X-linked hypophosphatemia (XLH) is characterized by excess FGF 23, hypophosphatemia, skeletal deformities, and growth impairment. Due to the lack of large-scale and long-term observational studies, not enough evidence has been accumulated to gain consensus on optimal care. A longitudinal, observational cohort study (SUNFLOWER) was initiated in Japan and South Korea to clarify the course of XLH; delineate its physical, mental, and financial burdens; and collect information on t...