Congenital adrenal hyperplasia: counselling from birth to the next generation
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders causing deficient cortisol synthesis. The commonest cause, 21-hydroxylase deficiency, accounts for about 9095% of cases. Other entities such as deficiencies of 11β-hydroxylase, 17α-hydroxylase, 3β-hydroxysteroid dehydrogenase type 2, and P450 oxidoreductase are considerably rarer. The differential diagnosis has to be established as different forms of CAH will require different therapeutic approaches and have different health risks. For over a decade, CAH newborn screening is clinical practice in an increasing number of countries. It is beneficial to reduce morbidity; however the impact on mortality is a matter of debate. Newborns detected early enough can be commenced on medication and generally avoid hospitalisation. Improved steroid analysis employing rapid and comprehensive mass spectrometry profiling as first or second tier test reduces false positive rates. Such improvements have also simplified the differential diagnosis of CAH other than 21-hydroxylase deficiency. The drug of choice for glucocorticoid replacement in paediatric life is hydrocortisone. This therapy aims to replace cortisol, to normalise androgens into age and sex-specific ranges and to avoid normalisation of 17-hydroxyprogesterone concentrations. No supporting evidence exists on superiority on different timings of glucocorticoid application. Glucocorticoids should be minimised to avoid iatrogenic side-effects and adjusted to requirement during infancy, childhood and adolescence. This is often only achieved if mineralocorticoid and salt replacement are meticulously monitored. Additional growth promoting and puberty suppressing treatment are not routine therapy. Co-morbidities in CAH have been described in adults and to some degree in children. However, comprehensive data on the general health status during childhood and adolescence do not exists. These are warranted to identify the onset of co-morbidities and develop paediatric preventive health care provision strategies in CAH to improve prevention of long-term co-morbidities. This presentation will discuss diagnostic strategies, therapeutic management and onset of long-term problems in CAH.
Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.
Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.