X-Linked Hypophosphatemia with Whole Aspects

X-linked hypophosphatemia (XLH) is a rare genetic disorder caused by mutations in the PHEX gene, and it is a primary example of a genetic cause of hypophosphatemia. The key effect of the PHEX muta tion is the overproduction of fibroblast growth factor 23 (FGF23), a known phosphatonin. Elevated FGF23 levels lead to renal phosphate wasting, reduced synthesis of 1,25(OH)2 D, and decreased para thyroid hormone levels. Chronic elevation of FGF23 is the root cause of lifelong hypophosphatemia. This ongoing phosphate deficiency leads to impaired growth, poor bone mineralization, and a variety of skeletal, dental, auditory, and cardiovascular issues, all of which negatively impact quality of life and may contribute to premature mortality. While phosphate supplementation and 1,25(OH)2 D ther apy remain foundational treatments, strategies targeting FGF23 have shown promising results and gained greater importance over the last decade. X-linked hypophosphatemia is a complex, multisys tem condition with lifelong effects, requiring a multidisciplinary approach to care. Cite this article as: Basmaci N, Gürlek A. X-linked hypophosphatemia with whole aspects. Endocrinol Res Pract. 2025;29(3):235-243.