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 treatment of pregnant mothers can avoid or reduce this virilisation. However, several concerns have been raised in recent years including the potential of future impact on psychological development and metabolic health in individuals exposed to dexamethasone in prenatal life. Furthermore, ethical concerns have been raised as three out four female fetuses will be exposed to dexamethasone, whilst being unaffected and not having any treatment benefit. Postnatally, all patients with require urgent detection to avoid salt wasting and metabolic deterioration. Whilst in most Western countries, this is facilitated by newborn screening, clinical care in the UK relies on the clinical diagnosis by health care professionals. Acute management requires a structured diagnostic work-up, the replacement of glucocorticoids and most often mineralocorticoids as well as sodium chloride. In addition, support of the parents needs to play an integral part of care provision during this early phase of treatment. This presentation will discuss recent developments on prenatal diagnosis, provide an overview on prenatal dexamethasone treatment and give a summary on postnatal diagnostic work-up and management.
22 - 24 Nov 2017
British Society for Paediatric Endocrinology and Diabetes