Faster diagnosis and use of individualised treatments for congenital hyperinsulinism has led to major improvements in neurological and endocrine outcomes over time, say Finnish researchers.
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.
Familial central precocious puberty caused by mutations in the makorin RING finger protein 3 gene is phenotypically similar to idiopathic forms, although it can vary with the severity of the mutation, a study shows.
Italian researchers report presenting characteristics and outcomes for children with primary adrenal insufficiency not caused by 21-hydroxylase deficiency congenital adrenal hyperplasia.
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.
Children with idiopathic short stature and skeletal deformities should be tested for the NPR2 mutation, recommend Chinese researchers who believe that children with heterozygous mutations may benefit from recombinant human growth hormone therapy.
The incidences of central precocious puberty and normal variant puberty have risen over the past 20 years, in line with overall population trends for earlier puberty in both girls and boys, say researchers.
Researchers have identified probable type 1 diabetes in children of an age more commonly associated with diagnosis of monogenic diabetes, raising the possibility that polygenic disease processes can begin in utero.
The diagnosis of central congenital hypothyroidism with or without multiple pituitary hormone deficiencies is frequently missed in children, even among those admitted to hospital, say Dutch researchers.