Chemical Pathology

Notes

  • Urinary steroid profiling provides a composite picture of adrenal function.
  • Oestrogen and aldosterone metabolites are not detected under normal circumstances.
  • Steroid metabolism in neonates is markedly different from that in children and adults and a urine steroid profile in neonates can avoid difficulties in interpreting results derived from other techniques which may be subject to interference from unusual steroids present at this time of life.

Indication

this test can be requested by consultant paediatricians or endocrinologists in the investigation and diagnosis of disorders of adrenal function such as male pseudo-hermaphroditism, steroid-producing tumours, steroid sulphatase deficiency, congenital adrenal hypoplasia, premature adrenarche or precocious puberty.

Patient preparation

  • In cases of ambiguous genitalia, it is important to obtain a karyotype.
  • Endogenous cortisol production cannot be usefully examined if hydrocortisone or cortisone acetate is being given. If glucocorticoid treatment is essential, dexamethasone is preferred since dexamethsone metabolites do not interfere in the assay.
  • For diagnosis of the cause (other than 21-hydroxylase deficiency) of salt-loss in a neonate, salt intake and mineralocorticoid treatment should be reduced as much as possible.

Sample requirements

For neonates, samples should be collected after day 3 of life.

  • A complete 24 hour urine collection with no preservative is ideal. Random samples can be used in neonates for the identification of inborn errors of metabolism.

For adults and children, all urine passed during a complete 24 hour time period, collected into a brown 3L bottle

24-hour urine container

For neonates, a minimum 5 ml urine taken into a 30mL Universal pot

30ml universal container

Storage/transport

Send at ambient temperature to the laboratory as soon as the collection is complete (ideally within 24 hours of completion).

Required information

Relevant clinical details including reason for the request and current treatment.

Turnaround times

Samples are sent to a referral laboratory for analysis to with results expected back within 4 weeks.

Reference ranges

A 24 hour urine collection or a spot urine sample in the case of suspected inborn error of metabolism in neonates is analysed for over 20 or so of the most abundant steroid metabolites and an interpretative report provided.

The steroid reference laboratory provides age appropriate reference data for 24 hour urine collections, and an interpretation of results based on relevant biochemical and clinical information.

Further information

To learn more about urine steroid profiling visit Supra-Regional Assay Service.

Page last updated: 20/05/2019