Sporadic medullary thyroid cancer in children linked to RET alterations
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.
Common genetic variants of pubertal timing differentially contribute to CDP, IHH
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.
Psychosocial, but not physical, QoL impaired in young patients with congenital adrenal hyperplasia
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.
Electronic health record codes for X-linked hypophosphataemia symptoms may help early diagnosis
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.
DNA methylation analysis reveals two patient clusters in adamantinomatous craniopharyngioma
Patients with adamantinomatous craniopharyngioma can be grouped into two distinct clusters based on their DNA methylation profile, Brazilian researchers report.
Age-, infection-related adrenal crisis risk ‘substantial’ in paediatric-onset adrenal insufficiency
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.
Extra X chromosomes show ‘dose–response’ impact on the endocrine system
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.
GnRHa ‘effective and safe’ for early fast puberty in girls
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.
Dasiglucagon reduces paediatric CHI-related hypoglycaemia episodes
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 therapy may benefit children with achondroplasia aged under 60 months
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.