Wide range of 46,XY partial gonadal dysgenesis phenotypes revealed
Study findings demonstrate the broad heterogeneous phenotypes found in children with 46,XY gonadal dysgenesis, with insights into likelihood of spontaneous puberty and risk of gonadal malignancy.
Hormone level thresholds over first year point to congenital hypogonadotropic hypogonadism
Measuring levels of testosterone, inhibin B and anti-Müllerian hormone at different time points over the first year of life may help diagnose congenital hypogonadotropic hypogonadism in infant boys with minor abnormalities of the external genitalia, French researchers say.
Adult BMD deficit risk highlighted for childhood cancer survivors
More than a quarter of childhood cancer survivors have moderate or severe bone mineral density deficits in adulthood, report US researchers who believe targeted interventions could reduce this burden.
CAH linked to low BMD after puberty in young men
Children and young adults with congenital adrenal hyperplasia may be at long-term risk of low bone mineral density, with the greatest risk found in boys and young men, Italian researchers have found.
Anastrozole may aid height growth for children with 21OHD CAH
Some children with congenital adrenal hyperplasia (CAH) could benefit from treatment with the aromatase inhibitor anastrozole to optimise their growth potential, US researchers suggest.
Encouraging oral infigratinib safety and efficacy profile reported for achondroplasia
Once daily oral treatment with infigratinib has a tolerable side effect profile and a significant positive benefit on both annualised height velocity and upper-to-lower body segment ratio in children with achondroplasia, indicates research published in The New England Journal of Medicine.
Minipuberty hormonal changes characterised for infant girls
A study of infant girls has characterised the hormonal changes of minipuberty and uncovered how the ovaries, uterus and reproductive hormones interrelate during this period.
Novel Silver–Russell syndrome genetic variants help unravel genotype–phenotype relationships
Researchers have identified novel pathogenic variants that may account for approximately 9% of children with Silver–Russell syndrome who have not previously had a molecular diagnosis and aid understanding of the relationships between genotype and phenotype.
Liraglutide reduces BMI in prepubertal children with severe obesity
Use of the glucagon-like peptide -1 receptor agonist liraglutide alongside diet and exercise guidance significantly reduces BMI in children aged 6 to 11 years with severe obesity compared with lifestyle interventions alone, shows the SCALE Kids Trial.
REAL5 update of somapacitan continues to support weekly hGH therapy for SGA children
One-year findings from the REAL5 trial show a continued growth response with use of long-acting human growth hormone treatment with somapacitan at a dose of 0.24 mg/kg per week in children born small for gestational age.
