Researchers have identified 10 novel single nucleotide polymorphisms that may help to predict the risk for familial short stature in Han Chinese children.
A case series illustrates the highly variable phenotypes of patients with congenital hypopituitarism caused by SOX3 duplication, and strengthens the association with neural tube defects.
Children with familial short stature who have mutations in their C-type natriuretic peptide receptor gene may respond well to growth hormone therapy, preliminary study findings indicate.
Factors including age at diagnosis and the specific disease influence the likelihood of children with chronic endocrine conditions being lost to follow-up, show French study findings.
Our podcast with Dr Sogol Mostoufi, from the Children’s Hospital of Philadelphia in Pennsylvania, USA, focuses on the treatment-related endocrine side effects commonly experienced by childhood cancer survivors, and the need for screening, life-long follow-up and treatment in this high-risk population.
Children born small for gestational age have bioactive insulin-like growth-factor 1 levels within the normal reference range during the first year of growth hormone treatment, despite substantial increases in IGF-1, research shows.
Researchers have found reduced brain volume in children with Silver-Russell Syndrome, as well as cognitive impairment that is dependent on the underlying genetic defect.
Children with IGF1 receptor mutations have a greater degree of growth retardation and worse response to recombinant human growth hormone therapy than children born small for gestational age without the alterations, research shows.
An algorithm-based search of the electronic health records of girls with idiopathic short stature can identify those with overlooked Turner syndrome, a study shows.
Children who are born small for gestational age and have syndromic short stature of unknown cause should be tested for genetic abnormalities using whole-exome sequencing, researchers suggest.
