Treatment advances translate to better congenital hyperinsulinism outcomes
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.
Case study: Prader-Willi syndrome
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.
Global increase in childhood thyroid cancer implies overdiagnosis
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.
GH therapy can bring Noonan syndrome children’s height within population norms
A study of children with Noonan syndrome treated in clinical practice shows a good response to growth hormone treatment, with the majority achieving a height within population norms.
GnRHa increases adult height, reduces BMI for precocious puberty girls
A systematic review and meta-analysis suggests that girls with idiopathic central precious puberty who are treated with gonadotropin-releasing hormone analogue therapy may expect to have a higher final adult height and lower BMI than if they do not receive the treatment.
Severity of MKRN3 mutation may influence CPP phenotype
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.
Abnormal growth ‘evolves years’ before juvenile acquired hypothyroidism diagnosis
A longitudinal study of Finnish patients with juvenile acquired hypothyroidism has revealed that an abnormal growth pattern may be present for up to 5 years before diagnosis.
Rare causes of paediatric primary adrenal insufficiency characterised
Italian researchers report presenting characteristics and outcomes for children with primary adrenal insufficiency not caused by 21-hydroxylase deficiency congenital adrenal hyperplasia.
Setmelanotide shows efficacy at phase 3 for POMC and LEPR deficiency obesity
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.
Two screens, different TSH cutoffs needed to detect all newborns with CH
Effective detection of newborn babies with congenital hypothyroidism requires a repeat screen with a lower thyroid-stimulating hormone cutoff for at-risk infants, research suggests.
Heterozygous NPRS mutation suggestive of rhGH response among ISS children
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.
Rates of CPP and normal variant puberty on the rise
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.