Synonyms
Pseudohypoparathyroidism (PHP); Resistance to parathyroid hormone (PTH)
Definition
In 1942, Fuller Albright and colleagues reported three patients with manifestations of hypoparathyroidism (hypocalcemia, hyperphosphatemia) but no response to the administration of parathyroid extracts in terms of normalizing the abnormal calcium-phosphate homeostasis. In addition, these patients presented with short stature, a round face and obesity, brachydactyly with shortening of some of the metacarpals, and ectopic calcifications, a phenotype now described as Albright’s hereditary osteodystrophy (AHO). Albright and his colleagues concluded that the underlying mechanism explaining the phenotype in these patients consists, at least in part, of a resistance to PTH action and they coined the eponym pseudohypoparathyroidism (PHP) (Albright et al. 1942). In this seminal publication, the first formal report on hormone resistance in humans, Albright et al. wrote: “Theoretically, one should obtain...
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References and Further Reading
Albright, F., Burnett, C., Smith, P., & Parson, W. (1942). Pseudo-hypoparathyroidism – An example of “Seabright-Bantam syndrome”. Endocrinology, 30, 922–932.
Linglart, A., Levine, M. A., & Juppner, H. (2018). Pseudohypoparathyroidism. Endocrinology and Metabolism Clinics of North America, 47(4), 865–888. https://doi.org/10.1016/j.ecl.2018.07.011.
Lowden, E., & Kopp, P. (2018). Principles of endocrine diseases. In A. Belfiore & D. LeRoith (Eds.), Endocrinology: Principles of endocrinology and hormone action (pp. 1–23). New York: Springer.
Mantovani, G. (2011). Clinical review: Pseudohypoparathyroidism: Diagnosis and treatment. The Journal of Clinical Endocrinology and Metabolism, 96(10), 3020–3030. https://doi.org/10.1210/jc.2011-1048.
Mantovani, G., Bastepe, M., Monk, D., de Sanctis, L., Thiele, S., Usardi, A., … Linglart, A. (2018). Diagnosis and management of pseudohypoparathyroidism and related disorders: First international Consensus Statement. Nature Reviews. Endocrinology, 14(8), 476–500. https://doi.org/10.1038/s41574-018-0042-0.
Mantovani, G., Bastepe, M., Monk, D., de Sanctis, L., Thiele, S., Ahmed, S. F., … Linglart, A. (2020). Recommendations for diagnosis and treatment of pseudohypoparathyroidism and related disorders: An updated practical tool for physicians and patients. Hormone Research in Pædiatrics, 93(3), 182–196. https://doi.org/10.1159/000508985.
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Kopp, P. (2022). Pseudohypoparathyroidism. In: La Rosa, S., Uccella, S. (eds) Endocrine Pathology. Encyclopedia of Pathology. Springer, Cham. https://doi.org/10.1007/978-3-030-62345-6_5177
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DOI: https://doi.org/10.1007/978-3-030-62345-6_5177
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