Genetic Disorders of Parathyroid Development and Function

Endocrinol Metab Clin North Am. 2018 Dec;47(4):809-823. doi: 10.1016/j.ecl.2018.07.007. Epub 2018 Oct 12.

Abstract

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.

Keywords: Etiologies; Genetics; Hypoparathyroidism; Parathyroid hormone.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Humans
  • Hypoparathyroidism / genetics*
  • Hypoparathyroidism / physiopathology
  • Parathyroid Diseases / genetics*
  • Parathyroid Diseases / physiopathology
  • Parathyroid Glands / growth & development*
  • Parathyroid Glands / physiopathology
  • Parathyroid Hormone / biosynthesis
  • Parathyroid Hormone / genetics

Substances

  • Parathyroid Hormone