Question 1221
Topic: Biology, Genetics & Bone HealingA 4-year-old boy presents with short stature, frontal bossing, and bowing of the lower extremities. Laboratory tests show normal serum calcium, decreased serum phosphate, and elevated alkaline phosphatase. Genetic testing reveals a mutation in the PHEX gene. What is the primary mechanism responsible for his condition?
Correct Answer & Explanation
. Impaired renal reabsorption of phosphate due to elevated FGF-23