Urine steroid profile

Description: 
Urinary Steroid Profiling by GC-MS.
Clinical details: 
Urine samples, usually in the form of an aliquot of a timed collection are analysed for some 20 of the most abundant steroid metabolites. Excretion rates are reported, compared with appropriate reference ranges and full interpretative comments provided. The technique is valuable as a quantitative tool for determining rates of steroid excretion as a guide to adrenal hyper- or hypo-function and qualitatively to survey abnormalities of steroid metabolism. It is especially powerful for identification of inborn errors of steroid metabolism and it is recommended that all suspected cases be checked by profiling. It has frequently provided the key to interpretation of unexpected findings when using diagnostic assays of single steroids. Many inborn errors are very rare, but a considerable archive of those known is held in the form of frozen specimens and data, enabling rapid comparison with new findings. Other uses of the technique include investigation of steroid metabolism in non-endocrine disease (e.g. alcohol misuse, liver disease) and of effects of drugs, herbal remedies and banned substances.

Profiling has special relevance to the perinatal period: suspected inborn errors of steroid metabolism may be identified rapidly post-partum to anticipate life-threatening steroid deficiency and in the case of gender ambiguity, to establish the gender of rearing as soon as possible. There are marked differences in steroid metabolism in newborns and immunoassays developed for children or adults frequently give discrepant results owing to the presence of cross-reactants. The identities of many of the metabolites unique to this stage of life were established for the first time by the laboratory and changes in time of patterns in both normal infants and those with inborn errors have been subject to detailed study. There is a paediatric endocrinologist (Dr Charles Buchanen) within King's College Hospital available for advice regarding investigation and management of such cases.
Sample type and Volume required: 
Sample preparation and transport: A 24h urine collection allows calculation of daily steroid excretion rates and provides a reliable overview of relative proportions; an untimed sample is informative for identification of inborn errors of steroid metabolism and steroid secreting tumours, but relative proportions require more cautious interpretation. Send a 20 mL portion in a plastic-capped universal container. Results can usually be obtained on smaller samples if required. We do not specify a lower volume limit. Samples can be stored before dispatch at 4°C for short periods of time or frozen if stored for longer. Preservatives, with the exception of merthiolate, should be avoided. When investigating suspected inborn errors of steroid metabolism in newborns, it is important to make a collection before instituting steroid or electrolyte replacement. The sample should preferably be collected more than 48h after birth. A wet, faeces-free portion of a disposable nappy can be supplied in place of a liquid sample. This can be placed in a 20ml or 60ml disposable container.
Turnaround time: 
3 weeks for written reports. Urgent results can usually be given over the phone within 3 working days.
Storage and transport: 
First class post within 4 days. If possible, please complete the request form and send as a hard copy (do not send electronically) with the sample. This will ensure all relevant information is available and will aid us in processing your test.
Contacts:
Steroid Laboratory at King's College Hospital
020 3299 4131
King's College Hospital
Denmark Hill
London SE5 9RS
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 06/12/2018