Congenital adrenal hyperplasia

Congenital Adrenal Hyperplasia (CAH) is the name given to a group of disorders. These cause impaired production of a chemical called cortisol.

UK NSC screening recommendation Based on the last UK NSC review of this condition that occurred in November 2021.

Screening is not currently recommended for this condition.

Newborn bloodspot screening for congenital adrenal hyperplasia is not recommended because:

aspects of the condition remain unclear, for example at what point children with CAH develop symptoms in their first month of life
current evidence suggests that some children would present with symptoms before the results of their screening tests would be available in the UK, and therefore they may not benefit from screening
current tests are not accurate enough and may miss babies (false negatives) or tell parents their baby has CAH when they do not (false positive), although some tests used in combination with an initial test show promise for reducing the number of false positives
further studies (ideally conducted in the UK) could help to improve the evidence relating to how good the tests are

Evidence review
This document provides the evidence on which the current UK NSC recommendation is based.

Coversheet
This document summarises the review process including the public consultation comments.

In 2016, the UK NSC did not recommend screening for this condition.

Evidence summary Congenital adrenal hyperplasia (2016)
This document provides the evidence on which the current UK NSC recommendation is based.

UK NSC coversheet & consultation responses (2016)
This document summarises the review process including the public consultation comments.

Date previous review completed: 2022

Next review estimated to be completed: 2025 to 2026.

To see previous evidence reviews, visit the UK NSC archive.

These organisations have expressed interest in this recommendation and may submit responses to evidence reviews.

If you think your organisation should be added, please contact us.