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.
Salivary 11-ketotestosterone measurement could improve CAH management and outcomes
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.
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.
Efficacy shown for long-acting TransCon GH in prepubertal GHD children
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.
Day Three: Diabetes genetic risk score aids discovery of novel monogenic subtypes
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.
Day Three: Gigantism: The importance of FIPA, AIP mutations and X-LAG
Recent developments in the field of pituitary gigantism, including the discovery of a new syndrome and genes related to this syndrome, were presented in a plenary session at the 58th Annual ESPE Meeting in Vienna, Austria.
Day Two: New classification system proposed for idiopathic short stature
The genetic causes of short stature are highly heterogenous and a new classification system for these children is needed, delegates were told at the 58th Annual ESPE Meeting in Vienna, Austria.
Day Two: Growth and growth factor research highlights presented at ESPE 2019
Growth hormone therapy in young children with Prader-Willi syndrome, genes linked to isolated short stature, and the role of insulin-like growth factor -2 in autoimmune disease are the subjects of three papers included in the 2019 Yearbook of Paediatric Endocrinology.
Day One: Key management points for young women with Turner syndrome described
Oestrogen is key to the management of adolescents and young women with Turner syndrome, with hormone replacement therapy generally preferable to the contraceptive pill, delegates were told at the 58th Annual ESPE Meeting in Vienna, Austria.
