A whole-exome sequencing study has identified novel genes involved in the development of spontaneous congenital hypopituitarism in a large group of unrelated children from Argentina.
Vosoritide treatment appears to increase growth velocity in children with hypochondroplasia and is well tolerated, show study findings
The majority of sporadic medullary thyroid cancer cases in children may be positive for RET mutations that are potentially amenable to treatment with a targeted agent, suggests research published in the Journal of Clinical Endocrinology & Metabolism.
Children and adolescents with congenital adrenal hyperplasia appear to have impaired psychosocial quality of life, particularly in the school domain, while physical QoL is preserved, suggest findings of a systematic review and meta-analysis.
Research has demonstrated a dose–response relationship between the number of supernumerary X chromosomes in young people with high-grade aneuploidies and the level of endocrine system impairment experienced.
Preliminary trial findings published in the Journal of Clinical Endocrinology & Metabolism point to the possible use of a glucagon analogue for the treatment of congenital hyperinsulinism in children.
The optimal exercise for improving insulin resistance in children and adolescents with overweight is a minimum of two to three 60-minute sessions per week of high-intensity interval training with or without resistance training, suggests a systematic review and extensive network meta-analysis.
Exome sequencing and chromosomal microarray analysis are useful tools for the identification of genetic causes underlying short stature, indicate the results of a systematic review and meta-analysis.
The Guideline Development Group has created a set of UK guidelines to aid clinicians in the diagnosis and treatment of children and young people with adamantinomatous craniopharyngiomas.
A study of children and young people with congenital adrenal hyperplasia in the UK shows poor quality of life in this patient population compared with healthy peers, with height and weight significant predictors of this outcome.
