Endocrine Abstracts (2008) 17 S2

Antenatal screening for congenital adrenal hyperplasia: clinical practice or research?

C Brain


GOSH and UCLH, London, UK.


The impact of having a baby delivered with ambiguous genitalia should not be underestimated. In the UK congenital adrenal hyperplasia (CAH) secondary to 21-hydroxylase deficiency is the commonest cause of genital virilization of a genetic female. Affected females may require feminizing surgery in the first year of life, with further surgery often being necessary at the time of puberty. Advances in molecular genotyping in CAH have made early antenatal diagnosis possible and the treatment of mothers with dexamethasone throughout pregnancy seems to significantly reduce virilization of affected females. Such treatment also reduces the exposure of the female brain to high levels of in utero androgens, which may have more permanent sequelae. There are however, potential risks to both the mother and developing child of such therapy, and long-term outcome studies are essential to monitor the potential metabolic and neurodevelopmental consequences, especially given the known link between glucocorticoids and tissue-specific programming of the glucocorticoid receptor with effects on cell proliferation.

The routine use of dexamethasone in at risk pregnancies remains controversial in the UK. In several countries such as France and USA however it is a standard part of the management of CAH. PREDEX is a collaborative European, multinational (8 countries), longitudinal study, uniquely collecting outcome data in all treated mothers and children, regardless of whether the treatment was to term or just for 5–6 weeks.

Although in the UK we are still awaiting formal ethical (MREC) approval, paediatric endocrinologists within the BSPED, are encouraged to collect the data prospectively as part of their clinical management of such pregnancies. Proformas for collection of data on both mothers and infants are available on the BSPED website (www.bsped.org.uk).

This paper will review recent European (PREDEX) experiences and discuss the current status of participation within the UK.

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