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.
A 4-year-old girl, referred to the Paediatric Assessment Unit by the GP, with a 2-week history of a cough, feeling unwell, and tired. Accompanied by her mother.
Girls with central precocious puberty or early and fast puberty benefit from the addition of recombinant human growth hormone to gonadotropin-releasing hormone analogues but the combination should not be routinely recommended, researchers report.
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.
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.