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Review
. 2018 Dec;47(4):809-823.
doi: 10.1016/j.ecl.2018.07.007. Epub 2018 Oct 12.

Genetic Disorders of Parathyroid Development and Function

Rebecca J Gordon  1 , Michael A Levine  2
Affiliations
Review

Genetic Disorders of Parathyroid Development and Function

Rebecca J Gordon et al. Endocrinol Metab Clin North Am. 2018 Dec.

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.

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Figures

Figure 1-
Figure 1-. DiGeorge Sequence
Patient 1: Relatively non-dysmorphic 1 year old male with DiGeorge Sequence. Note, bitemporal narrowing, malar flatness, squared helices with a prominent antitragus, attached lobes, a prominent blue tinged vessel over the nasal root, bulbous nasal tip with hypoplastic alae nasi, small mouth and mild micrognathia. Patient 2: 19-year-old male with DiGeorge Sequence. Note, malar flatness, mild upslanting palpebral fissures, unilateral helical protuberance, attached lobes, a broad nasal root and bulbous tip with hypoplastic alae nasi.
See this image and copyright information in PMC

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