Endocrine Abstracts

A recent audit of the urine steroid profile (USP) service at Glasgow Royal Infirmary (GRI) revealed that up to 25% of requests are made inappropriately, or without any clinical information. In contrast to the majority of biochemical testing, USP analysis is very labour intensive, and interpretation of results requires both quantitative and qualitative assessment of the profile. Adequate clinical information is essential to generate a complete report, as a number of steroids found in specific conditions must be identified manually. For example, 5-alpha reductase deficiency can only be identified by USP over the age of 3 months. Clinical indications for USP analysis are limited, but include ambiguous genitalia, salt-losing states, virilisation, hypertension, and adrenal tumours. The test is primarily used in the investigation of congenital adrenal hyperplasia. However USPs can also identify conditions such as 5α-reductase deficiency, hypo-/pseudohypoaldosteronism, Cushing’s and Conn’s syndromes, and adrenocortical carcinoma. Over the last two years, the service has confirmed cases of classical and non-classical 21-hydroxylase deficiency, non-classical 11-beta hydroxylase deficiency, adrenocortical carcinoma, and has provided additional evidence in the investigation of cases of hyperaldosteronism, and Cushing’s syndrome. In 2017 the service moved to a highly specific tandem mass spectrometric method, which is UKAS accredited, and the improvement in analytical specificity has enabled investigation of steroid ratios for identification of specific abnormalities. Herein we present data from a recent audit of the USP service, review clinical indications for USPs, and outline identification of different conditions. In 2014 GRI introduced a serum androgen profile, which has enhanced our ability to investigate steroid disorders, and compliments the USP service. In summary, with the right clinical information, USPs are a powerful and potentially diagnostic test for investigating disorders of adrenal steroid metabolism.