Familial central precocious puberty caused by mutations in the makorin RING finger protein 3 gene is phenotypically similar to idiopathic forms, although it can vary with the severity of the mutation, a study shows.
A longitudinal study of Finnish patients with juvenile acquired hypothyroidism has revealed that an abnormal growth pattern may be present for up to 5 years before diagnosis.
Italian researchers report presenting characteristics and outcomes for children with primary adrenal insufficiency not caused by 21-hydroxylase deficiency congenital adrenal hyperplasia.
The melanocortin 4 receptor agonist setmelanotide has significantly reduced hunger and resulted in weight loss in a phase 3 trial involving patients, including children, with pro-opiomelanocortin or leptin receptor deficiency obesity.
Effective detection of newborn babies with congenital hypothyroidism requires a repeat screen with a lower thyroid-stimulating hormone cutoff for at-risk infants, research suggests.
Children with idiopathic short stature and skeletal deformities should be tested for the NPR2 mutation, recommend Chinese researchers who believe that children with heterozygous mutations may benefit from recombinant human growth hormone therapy.
The incidences of central precocious puberty and normal variant puberty have risen over the past 20 years, in line with overall population trends for earlier puberty in both girls and boys, say researchers.
Researchers have identified probable type 1 diabetes in children of an age more commonly associated with diagnosis of monogenic diabetes, raising the possibility that polygenic disease processes can begin in utero.
A single measurement of plasma levels of a fragment of type X collagen may give an instant picture of how fast a child is growing, say researchers.
The diagnosis of central congenital hypothyroidism with or without multiple pituitary hormone deficiencies is frequently missed in children, even among those admitted to hospital, say Dutch researchers.