MKRN3 gene deletion can cause central precocious puberty without PWS
Whole-gene deletion of MKRN3 can cause central precocious puberty without any features of Prader–Willi syndrome, researchers report.
Awareness of MCT8 deficiency causing abnormal thyroid hormone transport may help early diagnosis
An extensive multinational study of patients with disordered thyroid hormone transport due to MCT8 deficiency has identified key characteristics that could help early diagnosis and the treatment of underlying risk factors associated with a poor outcome in affected patients.
GH Deficiency diagnosis feasible through newborn blood-spot screening cards
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.
Pubertal timing tied closest to that of same-sex parent
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.
Prepubertal DHEAS linked to timing of pubertal onset in girls
Levels of dehydroepiandrosterone sulfate at the age of 7 years may determine how soon healthy girls progress to thelarche, pubarche and menarche, say researchers.
Meta-analysis confirms growth hormone therapy benefits in Prader–Willi syndrome
A meta-analysis confirms growth and body composition benefits for children with Prader–Willi syndrome given recombinant human growth hormone.
DKA at paediatric type 1 diabetes diagnosis remains high
A major analysis covering three continents suggests that diabetic ketoacidosis remains unacceptably common among children newly identified with type 1 diabetes and shows few signs of improving.
Liraglutide enhances weight loss in obese adolescents
Adding liraglutide 3.0 mg to lifestyle therapy increases weight loss in obese adolescents, show the findings of a placebo-controlled phase 3 trial.
Kisspeptin-stimulation test response predicts delayed puberty outcome
Research suggests that a single challenge with the neuropeptide kisspeptin can distinguish between children with pubertal delay who will or will not require long-term gonadotropin-releasing hormone therapy.