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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.

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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.
Primary care electronic health record codes for rickets, genu varum or low levels of phosphate could help flag a potential diagnosis of X-linked hypophosphataemia, suggest study findings published in the Journal of Clinical Endocrinology & Metabolism.
Patients with adamantinomatous craniopharyngioma can be grouped into two distinct clusters based on their DNA methylation profile, Brazilian researchers report.
Adrenal crisis occurs in a “substantial proportion” of individuals with paediatric- onset adrenal insufficiency, say the authors of a prospective cohort study based in Japan.
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.
Gonadotropin-releasing hormone analogue therapy offers a similar benefit to girls with early fast puberty as it does to those with central precocious puberty, the results of an observational study suggest.
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.
Vosoritide may be given to children with achondroplasia aged under 60 months after phase 2 trial findings point to a tolerable adverse event profile and an increase in height Z score compared with placebo.
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.
Adrenal insufficiency is a common clinical feature in children and young adults with single large-scale mitochondrial DNA deletions, especially in those with Pearson syndrome, Italian researchers have found.
Children and adolescents with ectopic adrenocorticotropic hormone syndrome show a different aetiological profile to that of adults, suggests a systematic review of the literature.
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.
Martin Savage
Programme Director

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