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A 22 year old male had chronic tetany, hypocalcemia, hyperphosphatemia, short stature, round face, slightly short metacarpals, bone demineralization, elevated alkaline phosphatase, mental retardation, basal ganglia calcification, dental abnormality and bilateral cataracts. Diagnosis of pseudohypoparathyroidism was established through the negative phosphaturic response to exogenous parathyroid hormone. The radiocalcium kinetic analysis indicated normal miscible calcium pool and increased bone formation rate. Radioimmunoassay revealed detectable parathyroid hormone in plasma. Bioassay of thyrocalcitonin in thyroid tissue and peripheral venous plasma gave normal results. Clinical findings of 11 cases of pseudohypoparathyroidism in Japan are also summarized.

A Case of Pseudohypoparathyroidism with Increased Bone Turnover and Demineralization