One child in every 1,000 is significantly short, with one child in every 4,000 having growth hormone deficiency (GHD) and about one in every 10,000 having a rare genetic growth disorder.
Research conducted at The University of Manchester on growth disorders has led to new diagnostic tests and has influenced clinicians worldwide in recognising specific growth disorders and ensuring the right tests are used for the right child.
Professor Peter Clayton initiated the research in Brazil in 1997, working with Professor Manuel Aguiar-Oliveira on a very rare isolated population, some of whom had severe GHD, while others had a different genetic growth disorder without GHD.
His research group:
- characterised the growth factor and metabolic profiles in blood in these individuals with severe GHD and verified their accuracy as diagnostic tests;
- discovered new genes associated with 3-M syndrome (a genetic growth disorder that is present from conception and causes a baby to be born very small and remain small, with unusual facial features and slim long bones). The Manchester team included Graeme Black, Peter Clayton, Dan Hanson, Phil Murray and Forbes Manson.
- introduced molecular diagnostic tests for 3-M syndrome for use worldwide.
The research has provided a basis for interpreting diagnostic tests in those with milder forms of GHD, and has enabled precise diagnoses to be made in some babies who are born small and stay small but have no defined hormone deficiency.
Overall, this research has provided important insights that have contributed to internationally agreed guidelines for the management of growth disorders.
"There is now improved management of growth disorders within the paediatric endocrine community across the globe."Peter Clayton / Professor of Child Health and Paediatric Endocrinology