Pseudohypoparathyroidism

Abstract

Summary Since A lbright et al. (1942) reported the first three cases of a syndrome, which they called pseudo‐hypoparathyroidism, about fifteen cases have been described. Another case of pseudo‐hypoparathyroidism is described. The patient was a girl, aged 9, with short, thick‐set figure, round face, stubby hands with shortness of all metacarpals except those of index fingers, soft tissue calcifications, low IQ, hyperphosphatemia and hypocalcemia. She has an imbecile uncle with the same habitus. After administration of parathyroid extract there was no phosphate diuresis response and a small but insignificant increase of serum calcium levels. Dihydrotachysterol, however, kept the serum calcium on a level of the lowest limit of the normal values.