Panel testing recommended at Breda Genetics for this condition:
Hereditary hypoparathyroidism, isolated (PTH, GCM2, CASR)
Summary
Hypoparathyroidism is a clinical disorder characterized by hypocalcemia and hyperphosphatemia.
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:
– 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)
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