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Albright's Hereditary Osteodystrophy Comprising Pseudohypoparathyroidism and Pseudo-pseudohypoparathyroidism: With a Report of Two Cases Representing the Complete Syndrome Occurring in Successive Generations

Ann Intern Med. 1962;56(2):315-342. doi:10.7326/0003-4819-56-2-315
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Some 20 years ago Albright, Burnett, Smith, and Parson (1) first called attention to a syndrome in which certain skeletal abnormalities coexist with chemical and clinical findings characteristic of hypoparathyroidism. The chemical derangements (hypocalcemia, hyperphosphatemia) found in all three cases originally reported were refractory to correction by administration of parathyroid extract. Parathyroid biopsy obtained from their first patient, after treatment with dihydrotachysterol had corrected the hypocalcemia, disclosed normal parathyroid histology. The authors inferred that the renal tubule was failing to respond to an adequate quantity of circulating parathyroid hormone, and christened the condition "pseudohypoparathyroidism." Subsequently Elrick and others (2), reporting


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