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Familial Isolated Hypoparathyroidism

Clinical Genetics Endocrinology Genomics

Hypoparathyroidism is characterized by hypocalcemia and hyperphosphatemia due to inadequate supply or effectiveness of circulating parathyroid hormone (PTH).

Isolated hypoparathyroidism is caused by disease-causing variants in the AIRE, CASR, GATA3, GCM2, GNA11, PTH and TBCE genes (Sunthornthepvarakul et al 1999 J Clin Endocrinol Metab 84:3792-3796; Pollak et al 1994 Nat Genet 8:303-307; Baumber et al 2005 J Med Genet 42:443-448; Nesbit et al, 2013, New Eng. J. Med. 368: 2476-2486).

NHSE test directory code: R153 Familial hypoparathyroidism. Testing criteria can be found on this webpage: https://www.england.nhs.uk/publication/national-genomic-test-directories/.

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