Steroid Profiling

Abstract

This review describes the analytical aspects of urinary steroid profiling which is a multicomponent analysis using gas chromatography and mass spectrometry (GC-MS) designed to reveal, at the biochemical level, defects in metabolism largely of adrenal cortical steroids. The gonadal steroid metabolites are nearly always present at lower levels than the adrenal steroids and some metabolites are derived from hormones of both organs. A urine steroid profile is among those tests which are rarely requested by most laboratories, and because of the need for specialist steroid biochemical knowledge and equipment, the test is generally provided through the Supra Regional Assay service (SAS). A urinary steroid profile is particularly recommended for the investigation of infants of uncertain gender, but is also used in the investigation of children and adults with saltloss, virilization and hypertension. The clinical applications of steroid profiling in infants and childhood have been reviewed separately. I The adrenal cortex, gonads and placenta secrete steroid hormones into the circulation the concentrations of some of which are measured for diagnostic purposes. A serum hormone estimation will often need to be compared with the concentration of corresponding trophic hormones. In some endocrine investigations repeated sampling may be necessary in order to demonstrate the amplitude and frequency of pulsatile events or to examine hormone concentrations after a provocative test. Several measurements on a blood sample add considerably to the cost of the investigations of a patient with an endocrine problem.The simultaneous analysis of several urinary steroids is often complementary to serum hormone measurements. The measurement of steroid excretion rates in a 24 h urine sample (urine steroid profile) has the advantage of 32 integrating output and overcomes the problem of timing of blood samples in relation to the circadian level of adrenal activity. Although the complete profile is usually examined, sometimes it is only necessary to identify and quantitate selected steroids. The identification of steroids from mass spectrometric data will be more specific than relying upon the retention time alone of a peak in the GC analysis with flame ionization detector. The steroid content of urine by GC gives specific diagnostic information in a single analysis unaffected by the presence of unusual steroids which occur in blood and interfere with immunoassays. In many profile investigations, accurate quantitative data in a 24 h urine collection may not be essential because the balance of some individual or groups of metabolites may be so deranged that the effects can be detected in a spot sample. In some cases ratios of steroid concentrations, usually the substrate and product of one enzyme, provide diagnostic information. The effective use of steroid profiling requires a deep understanding of steroid endocrinology and is best performed in a referral centre with the support of specialist clinicians. In the newborn and patients with stero...

Raised urinary glucocorticoid and adrenal androgen precursors in the urine of young hypertensive patients: possible evidence for partial glucocorticoid resistance

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