Professor Martin Savage, Dr Cecilia Camacho-Hübner and Dr Linda Johnston hold academic positions in Paediatric Endocrinology. The principal interests of the unit are; the molecular and endocrine characterization of disorders of the GH-IGF-I axis, treatment of GH resistance with the recombinant IGF-I/IGFBP-3 complex, growth genetics and the investigation and treatment of paediatric Cushing’s syndrome.

There is close collaboration with Prof Adrian Clark’s laboratory, where identification of several new mutations of the GH-IGF-I axis have been demonstrated. We are currently co-ordinating a pivotal therapeutic trial of the recombinant IGF-I-IGFBP-3 complex (Insmed Inc) in patients with GH insensitivity syndrome. The NESTEGG project (Network for the study of genes in growth) is directed by Adrian Clark and co-ordinated by Linda Johnston. This project, which unites populations of short stature patients from London, Rotterdam , Toulouse and Tübingen will study candidate genes for linkage of SNPs with phenotypic variants in idiopathic short stature and children born SGA. It is funded by Pfizer.
We currently have a database of 46 patients with paediatric Cushing’s syndrome. Patients are referred from the UK, Europe and beyond. Characteristics of 30 patients with Cushing’s disease have been recently published. We collaborate closely with the Department of Adult Endocrinology, Neurosurgery and Radiotherapy.