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Presented at 2015_EU

Not Always CAH. Urine Steroid Profiling in the Investigation and Diagnosis of Adrenal Causes of Neonatal Hyponatraemia and Failure to Thrive
Francis Lam
UCLH NHS Foundation Trust

A baby presented at a local hospital with failure to thrive. Initial biochemistry showed hyponatraemia and hyperkalaemia. Other blood analyses were inconclusive. A spot urine sample was sent for urine steroid profile (USP) analysis. The USP showed a relative abundance of corticosterone metabolites with undetectable tetrahydroaldosterone, a pattern indicative of aldosterone synthase deficiency, subsequently confirmed by genetic testing in this laboratory. Where a steroid disorder is suspected, a USP has great utility since the specimen is easily accessible and can identify/exclude a variety of disorders. Where urgent samples are involved, analyses can be prioritised with relatively rapid turnaround time.

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