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A nation-wide survey for five "hormone receptor diseases" was carried out. For the first survey, an inquiry was sent to all hospitals in Japan having more than 200 beds, in order to determine how many patients there were between 1968-1977. A further detailed survey was carried out on patients who were reported in the first survey. The approximate numbers of patients in Japan estimated from these surveys are the following: testicular feminization syndrome (TFS), 390; pseudohypoparathyroidism (PHP), 220, nephrogenic diabetes insipidus (NDI), 280; Bartter's syndrome, 90; congenital adrenocortical unresponsiveness to ACTH (CAUA), 18. In 73 cases of TFS, partial virilization was observed in 23% (the incomplete form). Testes were found in all cases and the epididymis in 84%, whereas none of the patients had seminal vesicles. PHP consisted of 38 Type-I cases, 6 Type-II cases and 25 unclassified cases. There were 27 males and 42 females. Skeletal anomalies were found in two-thirds of the patients. Grades of hypocalcemia and soft tissue calcification were more prominent in Type I. After treatment, none of the Type-I patients showed normal urinary cyclic AMP response to parathormone, although urinary phosphate response was normalized in one and markedly improved in 4. In 78 patients with NDI, there were 67 males and 11 females. The age of the onset of NDI ranged from 0 to over 50, but 22 out of 29 cases of hereditary NDI had the onset at age 0. There seemed to be at least two subtypes; one beginning in the neonatal period or early childhood, and the other having the onset in late childhood or adult. The important initial symptoms were fever and anorexia in the early onset type. Growth retardation was remarkable in early childhood. Diuretics were effective in most of the cases. There were 22 male and 12 female patients with Bartter's syndrome. Indomethacin was effective in 9 out of 10 patients studied.

nippon naibunpi gakkai zasshi/nihon naibunpi gakkai zasshi/naibunpigaku zasshi

“Hormone Receptor Diseases” in Japan : A Nation-Wide Survey for Testicular Feminization Syndrome, Pseudohypoparathyroidism, Nephrogenic Diabetes Insipidus, Bartter's Syndrome and Congenital Adrenocortical Unresponsiveness to ACTH