Preferred Sample Type
Suitable Specimen Types
- Plain Spot Urine
Specimen Transport
First Class Post within 4 days of collection.Sample Processing in Laboratory
UsualSample Preparation
Record the 24h urine volume. Transfer 40 mL of urine preferably to two 20 mL Sterilin plastic bottles with plastic lids. Do not overfill the bottles and stand them upright if freezing prior to dispatch. Do not use Parafilm on the inside of the lid. Record on the SAS request form (Q Pulse form MRB367) the 24 h volume or duration of the collection, age and sex of the patient, clinical details and any relevant treatment.Turnaround Time
14 daysSample Stability
4 ºC or -20 ºCUrine Steroid Profile
General Information
Urinary steroid profiling by high resolution gas chromatography provides a composite picture of adrenal function. Oestrogen and aldosterone metabolites are not detected under normal circumstances. Steroid metabolism in newborn infants is markedly different from that in children and adults. In the newborn infant a urinary steroid profile avoids difficulties in interpreting results derived by other techniques which may be subject to interference from unusual steroids present at this time of life.
Clinical use:
- Disorders of adrenal steroid biosynthesis
- 46XY disorders of sex differentiation (DSD,Male pseudohermaphroditism)
- Steroid-producing tumours
- Steroid sulphatase deficiency
- Congenital adrenal hypoplasia
- Premature adrenarche / precocious puberty
- Adrenal suppression (exogenous steroids)
Patient Preparation
In cases of ambiguous genitalia it is important to obtain a karyotype. If the patient has hypertension, plasma renin activity and plasma aldosterone concentrations should be checked before considering steroid profile analysis. A 24h urine collection with no preservative is ideal. Random samples may be acceptable for the identification of inborn errors of steroid metabolism.
Endogenous cortisol production cannot usefully be examined if hydrocortisone or cortisone acetate is being given. If glucocorticoid treatment is essential, dexamethasone is preferred since dexamethasone metabolites do not interfere in the assay. A depot Synacthen test can be used to assess adrenal function during dexamethasone treatment.
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.
Notes
Ideally sample should be collected over timed period. Note volume and time of collection period. This, however, may not be possible in small children and additional arrangements can be made when contact Duty Biochemist (2506)
Reference Range
Provided by Reference Laboratory
Specifications
- EQA Status: No EQA SCHEME Available