Familial hypoparathyroidism may occur as an isolated endocrinopathy or as part of a wider clinical syndrome, including developmental, autoimmune and mitochondrial conditions. Familial forms of hypoparathyroidism can follow autosomal recessive, autosomal dominant and, rarely, X-linked inheritance patterns. Genomic testing can be undertaken if there is a family history, or as part of testing for another condition.

About 10% of cases of primary hyperparathyroidism are hereditary, presenting either as an isolated endocrinopathy or as part of a wider clinical syndrome.