X-Linked Familial Hypophosphatemia: A Case Report of 27-Year Old Male and Review of Literature.

ABSTRACT: X-linked hypophosphatemia (XLH) associated with short stature during childhood are mostly referred to the hospital and diagnosed as vitamin D deficiency rickets and received vitamin D before adulthood. A case is presented with clinical features of hypophosphatemia from childhood who did not seek medical care for diagnosis and treatment, nor did his mother or two brothers, who have short statures, bone pain, and fractures. The patient was assessed for sociodemographic, hematological, and biochemical parameters together with a genetic assessment. A DEXA scan and X-ray were done to determine the abnormalities and deformities of joints and bones despite clinical examination by an expert physician. All imaging, laboratory parameters, and the genetic study confirmed the diagnosis of XLH. A detai

SUBMITTER: Abdullah SJ 

PROVIDER: S-EPMC10562047 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature