Congenital adrenal hypoplasia


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Congenital adrenal hypoplasia Inclusion criteria:          

  • Combined primary glucocorticoid and mineralocorticoid insufficiency OR
  • Isolated primary glucocorticoid insufficiency OR
  • Isolated primary mineralocorticoid insufficiency

Congenital adrenal hypoplasia Exclusion criteria:

  • Congenital adrenal hyperplasia
  • Autoimmune Addison disease
  • Secondary adrenal insufficiency
  • Iatrogenic adrenal suppression due to glucocorticoid use
  • Post-infective adrenal dysfunction/haemorrhage/infiltrative disease
  • Metabolic adrenal insufficiency (X-linked adrenoleukodystrophy, mitochondrial disorders, Wolman syndrome)
  • Confirmed diagnosis of salt loss (e.g. pseudohypoaldosteronism type I or II, UTI, urethral values, renal conditions, cerebral salt loss etc.)

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.

Congenital adrenal hypoplasia 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:

  • NR0B1 for boys with combined glucocorticoid and mineralocorticoid insufficiency with a family history consistent with an X-linked disorder

Closing statement

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

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