Endocrine Abstracts

Measurement of steroid metabolites in urine by gas chromatography-mass spectrometry remains the gold standard for biochemical diagnosis of steroidogenic disorders. In the UK, three laboratories offer steroid profiling for routine clinical testing, with the Supraregional Assay Service at King’s College Hospital being the largest and experiencing increased demand year-on-year for testing. In this study, we used our profiling database to audit 2021 workload. By direct comparison to 2011 data, trends in sample volumes, clinical indications for testing and diagnostic utility of results provided were reviewed. In 2021, 3227 requests were received from 153 hospitals across the UK and Ireland, a significant increase from 2011 (1539 requests, 135 hospitals). 92.2% of reports were returned within stated turnaround of 21 days (2011, 67.2%), with 72 requests processed urgently (2011, 33). Requesting on random vs. 24 hour urines has increased (2021, 81% of requests vs. 2011, 67%). The commonest indication for testing overall remains precocious adrenarche/puberty (2021, 29.3% of requests vs. 2011, 27.5%). In neonates, the commonest indications were ambiguous genitalia (41.2% of requests), ?CAH (15.9%) and salt-wasting (8.1%). In adults, requesting as part of adrenal tumour work-up shows clear increase (2021, 38.2% of adult requests vs. 2011, 26.1%). Review of final diagnoses showed the service contributes valuable information across a spectrum of endocrine and non-endocrine diseases. Inborn errors of steroidogenesis (n=7) were identified in 2.9% of cases, with 21-hydroxylase deficiency predominating (2021, 56 cases vs. 2011, 45 cases). Diagnosis of adrenocortical carcinoma was made in 25 patients (2011, 9 patients). Even in the absence of an underlying disorder, profiling still provided useful information. For example, positive evidence for precocious adrenarche/puberty was found in 36.0% of cases in which it was suspected clinically. In conclusion, this audit shows the service provides an adaptable, responsive and clinically useful service to users.