The European Cooperation in Science and Technology Action DSDnet group have published recommendations for standardised data collection during clinical follow-up of patients with differences of sexual development.
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.
Retrospective diagnosis of Turner syndrome using electronic health records or screening at initial assessment
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.
Children with growth hormone deficiency receiving once-weekly TransCon human growth hormone achieve a significantly greater annualised height velocity than those receiving daily somatropin, results from the heiGHt trial show.
The type 1 diabetes genetic risk score differentiates between patients with monogenic and polygenic autoimmune diabetes and can thus be used to aid the discovery of novel genes associated with the monogenic form.
Plasma concentrations of the adrenal-derived 11-oxygenated-C19 androgen 11-ketotestosterone strongly correlate with salivary levels in children with congenital adrenal hyperplasia, UK researchers report.
A once-daily regimen of the thyroid hormone analogue Triac normalised serum levels of tri-iodothyronine in a phase II trial of paediatric and adult patients with transporter monocarboxylate transporter 8 deficiency.
Growth hormone deficiency is common among childhood cancer survivors and is associated with the use of hypothalamic-pituitary radiotherapy, alkylating agents and intrathecal chemotherapy, as well as adverse health outcomes, say researchers.
The prevalence of overweight and obesity remains high among European children, say researchers, with “worrisome” rising trends in some countries, despite stabilising rates and downwards trends in other countries.