PSEUDOHYPOPARATHYROIDISM: REPORT OF A CASE WITH LATE MANIFESTATIONS

Abstract

The clinical picture of an endocrine deficiency can be produced by end-organ refractoriness to a normal supply of a given hormone, as well as by a deficiency of the hormone. Pseudohypoparathyroidism is an example of this condition. In the case reported, a white male first diagnosed at age 49, the clinical features were the typical physical appearance (rounded head with short tapering neck, stubby extremities, and short metacarpals), soft tissue calcinosis, intra-cerebal calcifications, early cataracts, Parkinsonism, and a history of convulsive seizures as a youth. The abnormal laboratory findings were hypocalcemia and refractoriness to parathyroid hormone. The serum inorganic P was within normal limits. Biochemical assay and histologic studies showed the soft tissue calcifications to be remarkably similar to true bone. The low serum P, together with the spontaneous cessation of the convulsive seizures, suggested the possibility that some late homeo-static mechanism had evolved. Comparative therapeutic trials with AT-10 (dihydrotachysterol), Vitamin D, and CaCl2 were done. Large doses of AT-10 were required to produce chemical improvement. Vitamin D, with supplementary oral Ca admn, appeared to be a suitable form of treatment.