Differential diagnosis of hypocalcemia

The differential diagnosis of hypocalcemia is broad. The most common cause of hypocalcemia is inadvertent postsurgical hypoparathyroidism.

Autosomal Dominant hypocalcemia

An activating mutation of CASR gene results in a shift in the set point of CASR. As a consequence, PTH is not released at calcium concentration that normally triggers PTH release.


Mutations in the GNAS gene leads to end organ resistance to the effects of parathyroid hormones

  • Low calcium, high phosphate and elevated PTH levels

Autoimmune polyglandular syndrome type 1

This condition is also known as Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome

  • Mutations in the AIRE gene (typically expressed in parathyroid glands, pancreas, and adrenal cortex)

Wilson disease

Mutations in the ATP7B gene (encodes hepatic copper transporter). As a consequence, there is a defect in cellular copper transport. This leads to the accumulation of copper in various tissues (including the parathyroid glands)


Pepe J, Colangelo L, Biamonte F, Sonato C, Danese VC, Cecchetti V, Occhiuto M, Piazzolla V, De Martino V, Ferrone F, Minisola S, Cipriani C. Diagnosis and management of hypocalcemia. Endocrine. 2020 Sep;69(3):485-495.

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