Whole-gene deletion of MKRN3 can cause central precocious puberty without any features of Prader–Willi syndrome, researchers report.
Severe growth hormone deficiency can be detected with high accuracy using newborn screening cards, suggest researchers who recommend a diagnostic GH cutoff of less than 7 µg/L.
Researchers confirm that pubertal timing in girls is most strongly influenced by that of their mothers, whereas for boys their fathers have the stronger influence.
Adding liraglutide 3.0 mg to lifestyle therapy increases weight loss in obese adolescents, show the findings of a placebo-controlled phase 3 trial.
Researchers have identified 10 novel single nucleotide polymorphisms that may help to predict the risk for familial short stature in Han Chinese children.
Three-week-old baby referred to the paediatric endocrine clinic from a general paediatrician with ambiguous genitalia, accompanied by very anxious and upset parents.
Giving hydrocortisone four times daily at a time-varying dose may be the best approach for children with congenital adrenal hyperplasia, say the authors of a pharmaco (P)-kinetic and P-dynamic modelling study.
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.
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.