Phase 3 trial findings support the use of an oral corticotropin-releasing factor type 1 receptor antagonist for the treatment of classic congenital adrenal hyperplasia in children with 21-hydroxylase deficiency.
Find out more about this group of rare autosomal recessive conditions affecting the adrenal cortex called Congenital adrenal hyperplasia (CAH).
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.
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.
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.
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.
Find out more about the rare genetic causes of paediatric adrenal insufficiency and how best to treat affected children.
A diagnosis of pseudohypoparathyroidism type IA should be considered for infants who present with a combination of congenital hypothyroidism, parathyroid hormone resistance, early-onset obesity or minor dysmorphic features, Israeli clinicians suggest.
