Gene test for growth hormone deficiency developed

April 9, 2018 by Mike Addelman, University of Manchester

A new test developed by University of Manchester and NHS scientists could revolutionise the way children with growth hormone deficiency are diagnosed.

Children suspected of having GHD – which cause growth to slow down or stop and other serious physical problems—currently require a test involving fasting for up to 12 hours.

The fasting is followed by an intravenous infusion in hospital and up to 10 blood tests over half a day to measure production.

Because the current test is unreliable, it often has to be done twice before growth injections can be prescribed.

Now the discovery—which the team think could be available within 2 to 5 years -could reduce the process to a single blood test, freeing up valuable time and space for the NHS.

Dr. Adam Stevens from The University of Manchester and Dr. Philip Murray from Manchester University NHS Foundation Trust, were part of the team whose results are published in JCI Insight today.

Dr. Stevens said: "We think this is an important development in the way doctors will be able to diagnose growth hormone deficiency – a condition which causes distress to many thousands of children in the UK

"This sort of diagnostic would not be available even a few years ago but thanks to the enormous computing power we have, and advances in genetics, it is now possible for this aspect of care to be made so much easier for patients – and the NHS.

"These volume of data involved is so huge and complicated that traditional data-processing application software is inadequate to deal with it."

Comparing data from 72 patients with GHD and 26 healthy children, they used high powered computers to examine 30,000 genes—the full gene expression- of each child.

A sophisticated mathematical technique called Random Forest Analysis analysed around three million separate data points to compare different gene patterns between the children with and without GHD.

The research identified 347 genes which when analysed with the computer algorithm can determine whether a child has GHD or not and thus whether they will benefit from treatment.

Growth hormone deficiency (GHD) occurs when the pituitary gland—which is size of a pea- fails to produce enough growth hormone. It more commonly affects children than adults.

Many teenagers with GHD have poor bone strength, fatigue and lack stamina as well as depression, lack of concentration, poor memory and anxiety problems.

GHD occurs in roughly 1 in 5,000 people. Since the mid-1980s, synthetic growth hormones have been successfully used to treat children—and adults—with the deficiency.

Dr. Murray added: "This study provides strong proof of concept, but before it is in a position to be adopted by the NHS, we must carry out a further validation exercise which will involve comparing our new diagnostic with the existing test.

"Once we have crossed that hurdle, we hope to be in a position for this to be adopted within 2 to 5 years – and that can't come soon enough for these ."

Child Growth Foundation manager Jenny Child's daughter has Growth Hormone Deficiency.

She said: Growth Hormone Deficiency isn't just about growth, as lack of growth hormone impacts the child in many ways, such as lack of strength and they can find it difficult to keep up physically with their peers. It impacts the child's self-esteem as they are often treated as being much younger, because of their size. Growth hormone treatment allows the child to grow to their genetic potential.

"A hormone stimulation test can be very daunting for both child and parents. The can make the child feel quite unwell and they can experience headaches, nausea and unconsciousness through hypoglycaemia."

Explore further: Northern climes make a difference with growth hormone treatment

More information: Philip G. Murray et al. Transcriptomics and machine learning predict diagnosis and severity of growth hormone deficiency, JCI Insight (2018). DOI: 10.1172/jci.insight.93247

Related Stories

Northern climes make a difference with growth hormone treatment

October 28, 2015
The rate of growth in children varies with the season while higher latitude and greater summer daylight exposure makes a significant difference in results for children treated with growth hormone, according to new research ...

Childhood 'growth' tests not always necessary

October 6, 2017
(HealthDay)—Just because a child isn't growing or developing exactly like his or her peers doesn't mean a host of medical tests are in order.

Predicting growth hormone treatment success

December 12, 2007
Growth hormone treatments work better on some children than on others, but judging which candidates will gain those vital inches in height is no simple task. Now researchers have developed a new mathematical model which predicts ...

Growth hormone reverses growth problems in children with kidney failure

April 4, 2013
Growth hormone therapy can help reverse growth problems in children with kidney failure, according to a study appearing in an upcoming issue of the Clinical Journal of the American Society of Nephrology (CJASN). However, ...

Aromatase inhibitor plus growth hormone can optimize height

January 27, 2017
(HealthDay)—Use of an aromatase inhibitor in combination with growth hormone seems effective for optimizing height in 11β-hydroxylase-deficient congenital adrenal hyperplasia (CAH), according to a case report published ...

Going from strength to strength: effects of growth hormone on muscle

October 1, 2010
Growth hormone is used to treat children's growth disorders and has been used by some sports men and women to promote muscle growth and regeneration.

Recommended for you

Get a warrant: Researchers demand better DNA protections

December 18, 2018
New laws are required to control access to medical genetic data by law enforcement agencies, an analysis by University of Queensland researchers has found.

Sugar targets gut microbe linked to lean and healthy people

December 18, 2018
Sugar can silence a key protein required for colonization by a gut bacterium associated with lean and healthy individuals, according to a new Yale study published the week of Dec. 17 in the journal Proceedings of the National ...

Using light to stop itch

December 17, 2018
Itch is easily one of the most annoying sensations. For chronic skin diseases like eczema, it's a major symptom. Although it gives temporary relief, scratching only makes things worse because it can cause skin damage, additional ...

Law professor suggests a way to validate and integrate deep learning medical systems

December 13, 2018
University of Michigan professor W. Nicholson Price, who also has affiliations with Harvard Law School and the University of Copenhagen Faculty of Law, suggests in a Focus piece published in Science Translational Medicine, ...

Exercise-induced hormone irisin triggers bone remodeling in mice

December 13, 2018
Exercise has been touted to build bone mass, but exactly how it actually accomplishes this is a matter of debate. Now, researchers show that an exercise-induced hormone activates cells that are critical for bone remodeling ...

Pain: Perception and motor impulses arise in brain independently of one another

December 13, 2018
Pain is a negative sensation that we want to get rid of as soon as possible. In order to protect our bodies, we react by withdrawing the hand from heat, for example. This action is usually understood as the consequence of ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.