Growth retardation in the Lesch Nyhan syndrome

This study demonstrates that Lesch Nyhan syndrome patients exhibit significant growth retardation similar to that observed in other groups of patients with mental retardation. Endocrine studies indicate that this growth retardation cannot be attributed to pituitary or thyroid dysfunction. Serum somatomedin (sulphation factor) measurements were within the range of normal in 4 of the 5 patients studied. Therefore, the defect in growth and osseous maturation must be due to an abnormality in the end organ (cartilage).