Algorithm identifies missed Turner syndrome cases in electronic health records
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.
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.
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.
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.
Data from two large observational studies show that children treated in the USA receive a higher dose of the commercial growth hormone somatropin and are taller, older, and more likely to be boys than girls relative to those treated in Europe.

Daily treatment with subcutaneous vosoritide leads to a sustained increase in annualised growth velocity, with generally mild side effects, in children with achondroplasia, show data published in The New England Journal of Medicine.
The risk of a false–positive result on a low-dose adrenocorticotropic hormone stimulation test can be reduced in children by measuring cortisol levels at three consecutive time points instead of just one, researchers say.
Individuals with Noonan syndrome harbouring pathogenic variations in the PTPN11 gene respond well to treatment with recombinant human growth hormone, retrospective study data show.
Health-related quality of life in women with Turner syndrome bears little or no relation to their height and whether they received growth hormone treatment as a child, say researchers.
Data from clinical practice support the option of adding gonadotrophin-releasing hormone analogue to growth hormone therapy in some clinical situations to extend the treatment window and optimise final height in children with idiopathic short stature.