[Pseudohypohyperparathyroidism with the phenotype of the tricho-rhino-phalangeal syndrome].

A 14 year old boy with essential signs of the tricho-rhino-phalangeal syndrome type II (Langer-Giedion-Syndrome) showed multiple areas of osteolysis as well as nephrolithiasis of the left kidney. Urine analysis revealed hypercalciuria and a lacking excretion of c-AMP. Following the Ellsworth-Howard-Test (200 U parathyroid hormone i.v.) neither the phosphate excretion increased nor c-AMP could be detected. The present results are in accordance with an isolated insensitivity of the kidney to parathyroid hormone on one hand and a regulatorily caused hyperparathyroid response on the other with ensueing hypercalciuria and nephrolithiasis.