Genetic Disorders of Parathyroid Development and Function.

Endocrinol Metab Clin North Am

Division of Endocrinology and Diabetes, The Center for Bone Health, The Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, 3615 Civic Center Boulevard, Abramson Research Building, Room 510A, Philadelphia, PA 19104, USA.

Published: December 2018

Hypoparathyroidism is characterized by hypocalcemia and hyperphosphatemia and is due to insufficient levels of circulating parathyroid hormone. Hypoparathyroidism may be an isolated condition or a component of a complex syndrome. Although genetic disorders are not the most common cause of hypoparathyroidism, molecular analyses have identified a growing number of genes that when defective result in impaired formation of the parathyroid glands, disordered synthesis or secretion of parathyroid hormone, or postnatal destruction of the parathyroid glands.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6233988PMC
http://dx.doi.org/10.1016/j.ecl.2018.07.007DOI Listing

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