Diagnostic Criteria for Pseudohypoparathyroidism and Related Diseases

Abstract

In order to make a statistical survey of Japanese patients with pseudohypoparathyroidism and related diseases, we defined the diagnostic criteria for seven disease states described below. The criteria were mainly based on practical data readily available at standard hospitals. In the text, the seven diseases are described separately in the order of a) definition or conception, b) pathophysiology, c) proposed diagnostic criteria, d) comments on the diagnostic criteria. The diseases are (1) Pseudohypoparathyroidism Type I, (2) Pseudohypoparathyroidism Type II, (3) Pseudohypo-hyperparathyroidism, (4) Pseudopseudohypoparathyroidism, (5) Pseudoidiopathic hypoparathyroidism, (6) Vitamin D dependency type I and (7) Hypophosphatemic vitamin D resistant rickets. Based on these diagnostic criteria, a nation-wide investigation on patients with these diseases was performed (The detailed report will appear in a separate paper). The results indicated that these criteria are of considerable value in establishing diagnoses from questionnaires answered by practicing physicians.