
Rare genetic causes of primary adrenal insufficiency excluding congenital adrenal hyperplasia
Find out more about the rare genetic causes of paediatric adrenal insufficiency and how best to treat affected children.
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.
The Insights into MAnaging Growth for Endocrine nurses (IMAGE) March 2024 Meeting, organised by Springer Healthcare IME, provides high-quality, practical clinical training for nurses involved in paediatric endocrinology practice.
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.
A study of children in Finland reveals that diagnosis of primary adrenal insufficiency is most common shortly after birth and related to congenital adrenal hyperplasia, but after age 4 years, autoimmune-related diagnoses become more frequent.
Measuring morning salivary cortisol can be used to assess hypothalamic–pituitary–adrenal axis recovery in children who have completed a prolonged period of corticosteroid therapy, show study findings published in Hormone Research in Paediatrics.
The CRF1 receptor antagonist crinecerfont achieves “substantial reductions” in adrenal androgens and androgen precursors in adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, US researchers say.
Children’s weight trajectories between birth and 4 years of age are associated with their dehydroepiandrosterone sulphate levels at age 7 years, study findings show.
Researchers recommend next-generation sequencing for the first-line diagnosis of patients with 46,XY differences of sex development.
Steroid hormone profiles can identify the majority of children with non-congenital adrenal hyperplasia primary adrenal insufficiency, say researchers.