Abstract
Hypoparathyroidism is characterized clinically by the presence of hypocalcemia and hyperphosphatemia due to inadequate supply or effectiveness of circulating parathyroid hormone (PTH). It may be present either as an isolated finding or as a component of a more complex developmental, metabolic, or endocrinologic syndrome. While the most common cause of hypoparathyroidism continues to be surgical destruction1, several genetic etiologies have been identified that help define the molecular basis for less common causes. These genetic disorders can result in impaired embryologic development of the parathyroids, disordered synthesis or secretion of PTH, autoimmune destruction of the parathyroid gland, or inappropriate end-organ response to PTH (Table 1).
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Gafni, R.I., Levine, M.A. (2005). Genetic Causes of Hypoparathyroidism. In: Molecular Biology of the Parathyroid. Molecular Biology Intelligence Unit. Springer, Boston, MA. https://doi.org/10.1007/0-387-27530-4_12
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DOI: https://doi.org/10.1007/0-387-27530-4_12
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