ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This article reports a successful medical trial to test the therapeutic potential of targeting the BRAF-MEK pathway (using vemurafenib-cobimetinib combination therapy) in 16 patients with newly diagnosed papillary craniopharyngiomas (PCPs).The authors recruited 16 patients with PCP who tested positive for BRAFV600E mutation, had not undergone radiation therapy and had measurable disease. The primary endpoint was objective respons...

Brief Summary: This comprehensive systematic review and meta-analysis provides crucial insights into the prevalence and diagnostic challenges of central diabetes insipidus (CDI), vasopressin deficiency (AVP-D), following transsphenoidal surgery (TSS) for pituitary tumours.Despite advances in pituitary surgery techniques, posterior pituitary dysfunction remains a common and challenging complication in immediate post-operative management (1). AVP-D is the ...

Brief Summary: This multicentre retrospective cross-sectional study provides critical insights into the epidemiology, clinical presentation, and neurodevelopmental outcomes of central congenital hypothyroidism (CCH).CCH is a rare disorder that occurs due to insufficient hypothalamic-pituitary stimulation of the thyroid, characterized by low total T4 (TT4) with either low, normal or slightly elevated TSH. Most newborn screening (NBS) programs for CH are p...

Brief Summary: This single-centre retrospective cohort study offers valuable insights into the trajectory of weight gain in a paediatric craniopharyngioma cohort over a mean follow-up period of 10.4 years, reinforcing the necessity for targeted interventions to address this issue.Craniopharyngioma poses a substantial clinical challenge in paediatric patients, primarily due to the risk of hypothalamic involvement. A particularly severe long-term consequen...