Researchers have identified two naturally occurring, dominant-negative variants in the growth hormone receptor gene that act via the same molecular mechanism and contribute to the nonclassical growth hormone insensitivity phenotype.
This is the 9th IMAGE programme, which focuses on transgender management, bone health, and the genetics and treatment of growth disorders.
Observational data confirm that children born small for gestational age achieve the best growth outcomes if they start treatment with recombinant human growth hormone as young as possible.
Professor Martin Savage discusses the roles of clinical, endocrinological and genetic testing in the diagnosis and care of children with idiopathic short stature.
A multigene sequencing panel has successfully identified one or more gene variants in up to one in six children with idiopathic short stature, researchers report in Endocrine Connections.
Years of treatment with recombinant human growth hormone does not increase the cumulative lifetime exposure to insulin-like growth factor-1 above the population average in children born small for gestational age, a study shows.
A weekly injectable PEGylated recombinant human growth hormone gives significantly better height outcomes than no treatment in children with idiopathic short stature, shows a phase 2 trial.
Why is the growth plate the most important organ for childhood growth: how can it be investigated for clinical diagnosis?
Small-for-gestational age children should undergo regular measurements for the first 2 years after birth to help identify individuals who will benefit from recombinant human growth hormone therapy, German researchers advise.
Cardiometabolic risk in people born small for gestational age more than a decade after finishing therapy with recombinant human growth hormone is no higher than in those never given the treatment, a study shows.
