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SPEG (Scottish Paediatric Endocrine Group)
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Management of congenital hypothyroidism
Mutation analysis in suspected cases of dyshormonogenesis

Please update your RDS mobile app to version 4.7.1

We are pleased to advise that deep linking capability, enabling users to directly download individual mobile toolkits, has now been released on the RDS mobile app. When you install the update, you will see that each toolkit has a small QR code icon the header area beside the search icon – see screenshot below. Clicking on this icon will open up a window with a full-size QR code and the alternative of a short URL for sharing with users. Instructions are provided.

You may need to actively install the update to install RDS app version 4.7.1 to see this improvement. Installing this update is also strongly recommended to get the full benefits of the new contingency arrangements – specifically, that if the RDS website should fail, you will still be able to download new mobile app toolkits.

To check your current RDS version, click on the three dots bottom right of the RDS app screen. This takes you to a “More” page where you will see the version number. To install latest updates:

On iPhones – go to the Apple store, click on your profile icon top right, scroll down to see the apps waiting to be updated and update the RDS app.

On Android phones – these can vary, but try going to the Google Play store, click on your profile icon top right, click on “Manage apps and device”, select and update the RDS app.

Please get in touch with ann.wales3@nhs.scot with any questions.

Mutation analysis in suspected cases of dyshormonogenesis

SPEG (Scottish Paediatric Endocrine Group)

NHS National Services Scotland

If thyroid imaging suspects that the cause of the hypothyroidism might be due to an enzyme defect in the function of the thyroid gland, there is a mutation analysis service available in Scotland. This is based in the genetics laboratories of Queen Elizabeth University Hospital, Glasgow.

The service offers analysis for the three most common mutations responsible for dyshormonogenesis in Scotland, namely mutations in thyroperoxidase (TPO), thyroglobulin (Tg) and the TSH receptor (TSHR) genes.

For genetic testing, a sample of blood in an EDTA bottle is required. The lab requires at least 1ml volume.

Samples should be obtained from the infant, and also from both parents. This can be performed at a subsequent follow up visit as it may be difficult to obtain sufficient blood samples at the initial diagnostic visit.

The service is managed by Therese Bradley who can be contacted on therese.bradley@ggc.scot.nhs.uk or by telephone 0141 354 9330. If unavailable the duty scientist can be contacted on geneticlabs@ggc.scot.nhs.uk