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The Genetics of Osteoporosis and Metabolic Bone Disease pp 179–209Cite as

The Molecular Basis for Parathyroid Hormone Resistance in Pseudohypoparathyroidism

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Abstract

The term “pseudohypoparathyroidism” (PHP) describes a collection of disorders that share in common biochemical hypoparathyroidism (i.e., hypocalcemia and hyperphosphatemia), increased secretion of parathyroid hormone (PTH), and target tissue unresponsiveness to the biological actions of PTH. Thus the pathophysiology of PHP differs fundamentally from true hypoparathyroidism, in which PTH secretion rather than PTH responsiveness is defective. In their original report of PHP, Fuller Albright and his associates described the failure of patients with this syndrome to show a phosphaturic response to injected parathyroid extract (1). These observations led to the prescient speculation that biochemical hypoparathyroidism in PHP was due to an inability of the target organs, bone and kidney, to respond to PTH. During the more than fifty years since Albright’s original description of PHP we have learned much about PTH signaling through extensive clinical and biochemical studies of these unusual patients.

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    Michael J. Econs MD

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Levine, M.A. (2000). The Molecular Basis for Parathyroid Hormone Resistance in Pseudohypoparathyroidism. In: Econs, M.J. (eds) The Genetics of Osteoporosis and Metabolic Bone Disease. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-59259-033-9_11

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