Hereditary hypoparathyroidism, isolated

Panel testing recommended at Breda Genetics for this condition:

Hereditary hypoparathyroidism, isolated (PTH, GCM2, CASR)


Hypoparathyroidism is a clinical disorder characterized by hypocalcemia and hyperphosphatemia.

thyroid gland displayed within the neck in its vicinity to trachea
Image 1 – Thyroid gland.

Hypoparathyroidism manifests when parathyroid hormone (encoded by the PTH gene) secreted from the parathyroid glands is insufficient to maintain normal extracellular fluid calcium concentrations (defective synthesis or secretion) or, less commonly, when the hormone is unable to function optimally in target tissues, despite adequate circulating levels (end-organ resistance or inappropriate regulations that result from the activated or antibody-stimulated calcium-sensing receptor – CaSR). Genetically inherited forms of hypoparathyroidism arise from defects of parathyroid gland development, defects in the parathyroid hormone gene (PTH), defects in the calcium-sensing receptor gene, defects in the autoimmune regulator gene, and genetic syndromes.

Pure, nonsyndromic genetic forms of hypoparathyroidism (isolated hereditary hypoparathyroidism) include:

Image of the thyroid (in red) and four parathyroids glands (in yellow)
Image 2- Thyroid and parathyroid glands.

familial isolated hypoparathyroidism (PTH or GCM2 gene mutations)

X-linked form of hypoparathyroidism (as yet unknown gene)

Patients affected by genetic hypocalcemia (with or without with Bartter syndrome, CASR gene mutations) or hypocalciuric hypercalcemia, type I (CASR gene mutations) may also be initially diagnosed with hypoparathyroidism.

Genetic testing strategy

Given the genetic heterogeneity, we recommend proceeding to a next generation sequencing multigene panel based on either exome or genome sequencing.

Panel testing recommended at Breda Genetics for this condition:

Hereditary hypoparathyroidism, isolated (PTH, GCM2, CASR)


OMIM: 146200601198145980307700

Search here for the panel

Or try our Exome and Genome sequencing


Leave a Reply

Your email address will not be published. Required fields are marked *

Feel free to call us to book your appointment



Enter Email
Confirm Email

Subscribe to our newsletter to receive news on the world of genetics.

We regularly send specific information for Patients and Professionals with updates and news.
No Spam, that's information.

Newsletter Signup

Newsletter Signup