Gene test for growth hormone deficiency developed

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 growth hormone production.

Because the current test is unreliable, it often has to be done twice before growth hormone 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 children.”

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 growth hormone stimulation test can be very daunting for both child and parents. The test 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

Day 1 Coverage of ENDO 2015

ENDO_2015

 

Late-breaking Neuroendocrinology and Pituitary I

6-month interim safety and efficacy of different dose levels of TransCon HGH administered once weekly versus standard daily human growth hormone replacement therapy in pre-pubertal children with GHD
P Chatelain, O Malievsky, K Radziuk, HH Elsedfy, E Mikhailova, M Beckert


OR01-Clinical Issues in Type 1 and Type 2 Diabetes

Metformin as an adjunct therapy does not improve glycemic control among overweight adolescents with type 1 diabetes (T1D)
I Libman, KM Miller, LA DiMeglio, K Bethin, ML Katz, A Shah, JH Simmons, MJ Haller, S Raman, WV Tamborlane, J Coffey, AM Saenz, RW Beck


Patient-reported outcomes 1 year after randomization to laparoscopic adjustable gastric banding or intensive weight and diabetes management in obese patients with type 2 diabetes mellitus
DC Simonson, SA Ding, F Halperin, M Wewalka, K Foster, K Kelly, J Panosian, A Goebel-Fabbri, O Hamdy, K Clancy, D Lautz, A Vernon, AB Goldfine


Undermanagement of hyperlipidemia in young persons with type 1 diabetes (T1D)
ML Katz, GH Telo, JB Cartaya, CE Dougher, M Ding, LM Laffel


OR01-Clinical Issues in Type 1 and Type 2 Diabetes–Winner: Outstanding Abstract Award

18F-Flouride PET/CT and 18F-FDG labeled autologous leukocyte PET/CT for diagnosis of osteomyelitis in diabetic Charcot’s neuroarthropathy of foot
A Rastogi, A Bhansali


OR11-Thyroid Development, Clinical and Autoimmunity

Long-term outcomes and predictive factors of efficacy of ultrasound-guided ethanol injection for benign cystic thyroid lesions
E Papini, R Guglielmi, I Misischi, FM Graziano, A Persichetti, R Rendina, S Taccogna, G Bizzarri


OR11-Thyroid Development, Clinical and Autoimmunity–Winner: Outstanding Abstract Award

Novel insights into the effects of maternal thyroid function on child IQ reveal detrimental effects of high FT4 levels
TIM Korevaar, M Medici, H Tiemeier, E Visser, TJ Visser, RP Peeters


Oral Presentations in Reproductive Science–Winner: Oral Abstract Award in Reproductive Science

Kisspeptin signaling in the amygdala modulates reproductive hormone secretion
AN Comninos, J Anastasovska, M Sahuri-Arisoylu, X Feng Li, S Li, M Hu, CN Jayasena1, MA Ghatei, SR Bloom, P Matthews, K O’Byrne, JD Bell, WS Dhillo


PP09-Acromegaly

Biochemical control is maintained with pasireotide LAR in patients with acromegaly: Results from the extension of a randomized phase III study (PAOLA)
MR Gadelha, MD Bronstein, T Brue, MG Coculescu, L De Marinis, M Fleseriu, M Guitelman, V Pronin, G Raverot, I Shimon, J Fleck, A Kandra, AM Pedroncelli, A Colao


THR 113-137-Testis Cells: Control, Regulation and Functions

Effects of testosterone level on lower urinary tract symptoms
ED Crawford, W Poage, A Nyhuis, DA Price, SA Dowsett, D Muram

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