A 6 years and 5-month-old girl with Prader-Willi Syndrome (PWS) attends endocrine clinic with her mother. She was first seen by the endocrine team at 18 months old and the referral was made by a geneticist. Mum reports she has been obsessive and extremely challenging with her behaviour around food, and she is concerned about her child’s weight.
Researchers have detected a global increase in the incidence of thyroid cancer among children and adolescents similar to that reported for the adult population, raising concerns that screening-related overdiagnosis may also be occurring in young people.
The melanocortin 4 receptor agonist setmelanotide has significantly reduced hunger and resulted in weight loss in a phase 3 trial involving patients, including children, with pro-opiomelanocortin or leptin receptor deficiency obesity.
Rare copy number variants have been identified in a study of children who have growth hormone insensitivity or insulin-like growth factor-1 insensitivity, shedding light on the genetic basis of their conditions.
Hydrocortisone granules provide a straightforward and accurate means of treating infants and young children with congenital adrenal hyperplasia, with the largest issue being weaning them off sweetened pharmacy-compounded powder, research shows.
The C-type natriuretic peptide analogue vosoritide significantly increases the growth rate of children with achondroplasia, indicate the results of a randomised, double-blind phase 3 study published in The Lancet.
Primary ovarian insufficiency affects the majority of girls with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, in most cases occurring before they have attained their final adult height, show data from a national cohort.