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Genetic Disorders of Parathyroid Development and Function.

Rebecca J Gordon1, Michael A Levine2

  • 1Division 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, 11 Northwest Tower, Suite 30, 3401 Civic Center Boulevard, Philadelphia, PA 19104, USA.

Endocrinology and Metabolism Clinics of North America
|November 5, 2018
PubMed
Summary

Hypoparathyroidism, a condition of low calcium and high phosphate, results from insufficient parathyroid hormone. Genetic defects are increasingly identified as causes, affecting parathyroid gland development or hormone function.

Keywords:
EtiologiesGeneticsHypoparathyroidismParathyroid hormone

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Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Background:

  • Hypoparathyroidism presents with hypocalcemia and hyperphosphatemia due to parathyroid hormone deficiency.
  • It can occur as an isolated disorder or part of a larger syndrome.
  • While not the most frequent cause, genetic factors are increasingly recognized in hypoparathyroidism.

Purpose of the Study:

  • To review the genetic underpinnings of hypoparathyroidism.
  • To highlight the molecular mechanisms leading to parathyroid hormone deficiency.
  • To underscore the role of genetic analysis in understanding this endocrine disorder.

Main Methods:

  • Literature review of genetic studies in hypoparathyroidism.
  • Analysis of molecular mechanisms affecting parathyroid gland development and function.
  • Compilation of identified genes associated with hypoparathyroidism.

Main Results:

  • Molecular analyses have identified numerous genes implicated in hypoparathyroidism.
  • Defects in these genes can impair parathyroid gland formation.
  • Genetic mutations can also disrupt parathyroid hormone synthesis, secretion, or lead to gland destruction.

Conclusions:

  • Genetic disorders represent a significant and growing cause of hypoparathyroidism.
  • Understanding these genetic defects is crucial for diagnosis and potential therapeutic strategies.
  • Further molecular research will continue to elucidate the complex etiology of hypoparathyroidism.