Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
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.

PubMed Disclaimer

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

References

    1. Ding C, Buckingham B, Levine MA. Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB. The Journal of clinical investigation 2001;108(8):1215–1220. - PMC - PubMed
    1. Liu Z, Yu S, Manley NR. Gcm2 is required for the differentiation and survival of parathyroid precursor cells in the parathyroid/thymus primordia. Developmental biology 2007;305(1):333–346. - PMC - PubMed
    1. Bowl MR, Mirczuk SM, Grigorieva IV, et al. Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism. Human molecular genetics 2010;19(10):2028–2038. - PubMed
    1. Canaff L, Zhou X, Mosesova I, Cole DE, Hendy GN. Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism. Human mutation 2009;30(1):85–92. - PubMed
    1. Mirczuk SM, Bowl MR, Nesbit MA, et al. A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism. J Clin Endocrinol Metab 2010;95(7):3512–3516. - PubMed

Publication types

MeSH terms

Substances