Familial or syndromic hypoparathyroidism


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 Inclusion criteria:

  • Hypocalcaemia, congenital or acquired
  • High normal or raised serum phosphate
  • Low or low-normal plasma parathyroid hormone in the presence of hypocalcaemia
  • Normal serum 25-OH vitamin D
  • Low serum magnesium may be present, but is not required for diagnosis

AND

  • At least one first degree relative with hypoparathyroidism, OR
  • At least one additional congenital anomaly or unexplained medical disorder likely to be causally related to the hypoparathyroidism

 Exclusion criteria:

  • Significant renal failure (estimated creatinine clearance < 30 mls/min), renal dysplasia, sensorineural deafness (HDR syndrome).
  • Skeletal manifestations of pseudohypoparathyroidism.
  • Elevated parathyroid hormone.

Prior genetic testing guidance

  • Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
  • Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Prior genetic testing genes

Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:

  • CASR

Closing statement

These requirements will be kept under continual review during the main programme and may be subject to change.

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