Cognitive performance impacted in Silver-Russell syndrome, particularly with underlying mUPD7
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.
Case History – The Importance of Thorough History Taking
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.
Bioactive IGF-1 remains normal despite high total levels in SGA children receiving GH
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.
Calcium levels serve as marker of genetic severity of neonatal severe hyperparathyroidism
Cases of neonatal severe hyperparathyroidism fall into two distinct categories determined by the number of causative genetic variants, which can be distinguished simply by measuring maximal calcium levels, say researchers.
Cognitive performance impacted in Silver-Russell syndrome, particularly with underlying mUPD7
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.
Case History – The Importance of Thorough History Taking
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.
Real-world data support guideline stance on rhGH plus GnRHa in central precocious or early and fast puberty
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.
IGF1 receptor mutation linked to less favourable rhGH therapy response
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.
Standardised data collection scheme outlined for people with DSD
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.
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.
Expert commentary
Retrospective diagnosis of Turner syndrome using electronic health records or screening at initial assessment
Whole-exome sequencing may help refine syndromic short stature diagnosis
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.
