Have babies died in the UK of undiagnosed congenital adrenal hyperplasia? | Children's Charity

Have babies died in the UK of undiagnosed congenital adrenal hyperplasia?

This research was completed on 31 October 2009

Published on 31 January 2008

Researchers fear some babies might be dying in the UK, because of a failure to diagnose and treat all cases of a genetic illness, called congenital adrenal hyperplasia (CAH). They believe the introduction of a national screening programme for CAH might save lives, by ensuring all affected babies are identified and treated. Now the researchers are investigating their suspicions.

What's the problem and who does it affect?

Untreated CAH can kill

Babies with CAH have a hormonal imbalance, which can cause a variety of problems. Some baby girls with CAH are born with abnormal genitals.

Although this means they are sometimes mistaken for being a boy, it helps with diagnosis of their illness. It can be much harder to recognise the disease in baby boys, as their symptoms tend to be less obvious. Often, babies with untreated CAH don’t feed properly, they vomit regularly, fail to gain weight and can become floppy and lethargic. Although these symptoms are very unpleasant, for both the baby and their anxious parents, they can be hard to pin down.

Sadly, when undiagnosed and untreated, babies with CAH can become so seriously ill they collapse and die, within just a few weeks of birth. We already have treatments that can save babies’ lives, and national screening of newborns has proved effective many countries. But the UK does not screen babies for CAH and evidence suggests that some babies here, particularly boys, may be dying because their illness is going undiagnosed and untreated.

What is the project trying to achieve?

Have babies died of undiagnosed CAH?

Researchers are investigating whether or not babies have died of CAH without anyone realising that they actually have the illness. They are focusing on babies born in the Manchester area between 1993 and 2006, who died before 6 months of age.

Manchester’s Newborn Screening Laboratory is providing blood samples from the babies, which were taken via the routine heel prick test – usually performed when babies are 5 to 8 days old to screen for illnesses such as hypothyroidism. The laboratory analyses and stores samples from around 9% of all babies born in the UK.

The researchers are testing the blood samples to find out whether or not any of the babies had CAH. First, they are checking the concentration of a substance called 17-OHP. Babies with CAH have increased concentrations of 17-OHP in their blood. Then they are analysing DNA from samples that have increased 17-OHP, to test for mutations that are known to cause CAH. The results should show how many of the babies had CAH.

What are the researchers' credentials?

Project LeaderMrs B E Hird DipRCPath
Project team
  • Mrs Lesley Tetlow FRCPath
  • Prof Peter Clayton FRCPCH
  • Dr Simon Tobi BSc PhD
  • Dr Leena Patel MBBS MD(Paed) MRCP FRCPCH MHPE MD
LocationNewborn Screening Laboratory, Department of Biochemistry and Endocrinology Department, Royal Manchester Children's Hospital, in conjunction with the National Genetics Reference Laboratory, and regional molecular genetics service St Mary's Hospital, Manchester
Other locations
  • Department of Biochemistry, Royal Manchester Children’s Hospital.
  • Endocrine Science Research Group, Core Technology Unit, School of Medicine, University of Manchester. National Genetics Reference Laboratory and Regional Genetics Service, St Mary’s Hospital, Manchester. Academic Unit of Child Health, School of Medicine, University of Manchester.
Duration6 months
Grant awarded31 October 2007
Start date31 October 2008
End date31 October 2009
Grant amount£7,491.00
Grant codeSP4282

We do not provide medical advice. If you would like more information about a condition or would like to talk to someone about your health, contact NHS Choices or speak to your GP. Please see our useful links page for some links to health information, organisations we are working with and other useful organisations. We hope you will find these useful. We are not responsible for the content of any of these sites.

The project leader, Mrs Beverly Hird, is an experienced biochemist, specialised in analysing clinical samples taken from babies. She is based at the Newborn Screening Laboratory, at the Royal Manchester Children’s Hospital, which has an excellent track record in undertaking this type of study. It is responsible for monitoring a large proportion of the UK’s babies and children with CAH.

The project team is highly skilled in the laboratory techniques that will be used in this study – in the measurement of hormone concentrations in blood spot samples and in the analysis of the genetic mutations involved in CAH. Indeed, collaboration between the researchers in the project team, who have top-class clinical, genetic and biochemical expertise, gives the study every chance of success. Professor Clayton, for example, is a world expert in the action of hormones in babies and children.

Who stands to benefit from this research and how?

Strengthening the case for national screening

Studies suggest that, in European countries, between 1 in 10,000 and 1 in 14,000 babies have CAH.1 The researchers suspect that some babies may have died of CAH in the UK, because their illness has gone undiagnosed and untreated.

The results of this study will show whether or not the researchers’ suspicions are correct. This will help clarify whether the UK should follow the example of many other countries, and introduce a national screening programme for CAH in newborns.

Screening could help ensure that all babies with CAH receive early treatment. This could save babies’ lives and stop them from suffering the severe symptoms that develop when the illness goes untreated. It could also spare parents from the anxiety of not knowing what is wrong with their baby.

It’s possible that screening might even prevent longer term complications, as evidence suggests that babies whose illness is diagnosed after they become seriously ill are more likely to develop learning disabilities and behavioural problems as they get older.2


  1. Seymour CA, Thomason MJ, Chalmers RA, Addison GM, Bain MD, Cockburn F, Littlejohns P, Lord J, Wilcox AH. Newborn screening for inborn errors of metabolism: a systematic review. Health Technol Assess. 1997;1(11):i-iv, 1-95.
  2. Van der Kamp HJ, Wit JM. Neonatal screening for congenital adrenal hyperplasia. Eur J Endocrinol 2004; 151: U71-U75. (2)
Help us spread the word