Endocrine Abstracts

Congenital adrenal hyperplasia (CAH) comprises a family of inherited autosomal recessive disorders of steroidogenesis, characterized by deficiency of cortisol and an accumulation of substrate precursors. CAH is most commonly caused by 21-hydroxylase deficiency, which causes virilisations of the external genitalia in females. In addition, deficiency of 11-hydroxylase and P450 oxidoreductase are also associated with virilisation of the external genitalia in females. Prenatal tre...

Background: As diagnostic workup and management of patients with Disorders of Sex Development (DSD) evolves, access to the latest advances should continue.Aims: To explore whether DSD patients in the West Midlands Region (WMR) remain under follow up, having optimal diagnostic workup and management.Method: An unselected cohort of 48 patients with discrepant phenotypic gender and sex chromosomes in the WMR were identified from the re...

Background: Adrenal insufficiency (AI) results from deficient production/action of glucocorticoids (GCs), with or without deficiency of mineralocorticoids (MC) and adrenal androgens. GC treatment is essential but some patient needs MC therapy to allow sodium(Na+) retention, potassium(K+) excretion and to maintain normal plasma volume and blood pressure. Much attention has focused on optimization of GC replacement but no consensus exists for optimization o...

Background: The reported occurrence and management of acute adrenal insufficiency–related adverse events in children vary widely between centres and may depend on available resources.Methods: Real world data from the I-CAH Registry that included a total of 2478 patient years follow-up on 607 children from 44 centres were studied and their association to the results of a health care survey of these centres that enqui...