Rare GNAS mutations may underpin severe obesity even in absence of pseudohypoparathyroidism
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.
Negative pituitary MRI influences remission, not recurrence of paediatric Cushing’s disease
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.
Rare GNAS mutations may underpin severe obesity even in absence of pseudohypoparathyroidism
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.
rhGH treatment has positive growth, body composition effects in Kabuki Syndrome
Recombinant human growth hormone appears to have a positive effect on growth in children with Kabuki Syndrome, shows an open-label study.
Negative pituitary MRI influences remission, not recurrence of paediatric Cushing’s disease
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.
IGF-I reference curves show healthy infant growth characteristics
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.
Macimorelin shows promise for GHD diagnosis in children
A phase 2 study of macimorelin in children with suspected growth hormone deficiency shows similar results to those established in adults.
Harmonised BMD surveillance guidance for young cancer survivors released
An international expert group has published recommendations for the monitoring of bone mineral density in child, adolescent and young adult survivors of cancer.
Genetic testing can contribute to clinical diagnosis of delayed puberty
Genetic analysis can confirm or challenge initial clinical diagnoses, helping doctors refine treatment for adolescents with delayed puberty, report researchers.
Novel ‘BDV syndrome’ has considerable clinical overlap with PWS
Researchers describe a novel autosomal recessive genetic syndrome that may be misdiagnosed as Prader–Willi syndrome.
Type 1 diabetes risk alleles linked to late-infancy growth
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.
Long-acting growth hormone prodrug ‘superior’ to daily somatropin
The heiGHt Trial investigators report that once-weekly treatment with lonapegsomatropin offers noninferior and indeed superior annualised height velocity to that achieved with daily somatropin for children with growth hormone deficiency.