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.
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.
Childhood obesity linked to decreased penile length in puberty
Overweight and obese boys have reduced testosterone levels and shorter penises during puberty than their normal-weight counterparts, study findings demonstrate in The Journal of Clinical Endocrinology & Metabolism.
rhGH biosimilar ‘effective’ for Turner’s syndrome height gain in clinical practice
Findings from the PATRO Children study support the use of a biosimilar formulation of recombinant human growth hormone in children with Turner’s syndrome.
Cardiological tests indicated in melanocortin pathway mutations linked to reduced cardiac mass
Children with monogenic obesity linked to mutations in the leptin-melanocortin pathway have lower cardiac muscle mass than other obese children, as well as greater tissue storage of sodium, research suggests.
Updated congenital adrenal hyperplasia strategy reduces false-positive screening rate
Research from New Zealand shows that the rate of false-positive neonatal screening tests for congenital adrenal hyperplasia can be reduced without a loss in sensitivity by assessing additional steroid markers adjusted for birthweight or corrected gestational age.
Growth hormone insensitivity encompasses wide range of clinical entities
Researchers have found a large variety of genetic diagnoses in children with short stature investigated for suspected growth hormone insensitivity.