Researchers have identified pathogenic mutations in the gene encoding the stimulatory G-protein alpha subunit protein in children with severe obesity but few or no clinical signs of pseudohypoparathyroidism.
Recombinant human growth hormone appears to have a positive effect on growth in children with Kabuki Syndrome, shows an open-label study.
Children with Cushing’s disease who have a negative magnetic resonance imaging pituitary scan are less likely to achieve remission after surgery than those with a confirmed tumour, say researchers.
A cohort study of healthy infants has characterised the relationships between circulating levels of insulin-like growth factor (IGF)-I and IGF binding protein (IGFBP)-3 and changes in body length and weight in the first year of life.
A phase 2 study of macimorelin in children with suspected growth hormone deficiency shows similar results to those established in adults.
An international expert group has published recommendations for the monitoring of bone mineral density in child, adolescent and young adult survivors of cancer.
Genetic analysis can confirm or challenge initial clinical diagnoses, helping doctors refine treatment for adolescents with delayed puberty, report researchers.
Researchers describe a novel autosomal recessive genetic syndrome that may be misdiagnosed as Prader–Willi syndrome.
Programme Director Professor Martin Savage will be joined by experts to present and discuss the application of precision medicine in endocrine disorders, offering clinical expertise and insight, evidence and opinion on this topic.
The human leukocyte antigen polymorphisms that increase the risk of type 1 diabetes are linked to growth and insulin-like growth factor-I levels during infancy, say researchers.