Assays / Hormones / Steroid Profile (urine)

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
1 Disorders of adrenal function.

2 Male pseudohermaphroditism.

3 Steroid-producing tumours.

4 Steroid sulphatase deficiency.

5 Congenital adrenal hypoplasia.

6 Premature adrenarche / precocious puberty.

7 Adrenal suppression (exogenous steroids).

Applications
1 Disorders of adrenal function.

(a) Virilisation of a newborn female

Congenital adrenal hyperplasia (CAH) due to:

Characteristic profiles are found after day 3 of life for each type. CAH requires life-long treatment and a steroid profile is desirable on any patient with a suspected inborn error of steroid metabolism to clarify the nature of the steroids in excess.

(b) Hypertension

17a-hydroxylase deficiency is rarely detected in childhood and more usually presents in phenotypic females with delayed puberty, primary infertility, amenorrhoea and hypertension.

11b-hydroxysteroid dehydrogenase deficiency (or apparent mineralocorticoid excess syndrome ) presents with severe hypertension usually in childhood.

(c) Salt-loss

2 Male pseudohermaphroditism.
In an incompletely virilised male, a steroid profile is of limited use in the newborn period for the diagnosis of disorders of testosterone production or metabolism. If the boy is older than 3 months a defect of 5a-reductase is revealed by the finding of low ratio of 5a- to 5b- reduced metabolites of cortisol. In a pubertal child, the defect is also clearly reflected in the distribution of androgen metabolites.
17b-hydroxysteroid dehydrogenase deficiency and other causes of low testosterone production are not detected by urine steroid profile analysis.

3 Steroid-producing tumours
Adrenal tumours may secrete hormones (e.g. cortisol, androgens, 11-deoxycorticosterone), inactive steroids (16a-hydroxy DHA or pregnenolone) or be non-functional (no steroid production by the tumour). It is useful to have a profile before surgery so that recurrence can be monitored.Gonadal tumours may result in increased plasma sex steroid concentrations but usually do not change the urine steroid profile.

4 Steroid sulphatase deficiency.
In pregnancy this condition is characterised by increased excretion of androgen sulphates and reduced excretion of oestriol in maternal urine.

5 Congenital adrenal hypoplasia.
There are two types distinguishable by the urine steroid profile. In the anencephalic type, no fetal adrenal steroids are found in newborn infant urine. In the miniature adult type all steroids are found, but at low levels.

6 Premature adrenarche/ precocious puberty.
When there are signs of virilisation this may be due to an adrenal tumour or to a mild form of CAH, most commonly the 21-hydroxylase defect. Adrenal tumours may secrete DHA or 11b-hydroxy- androstenedione. Premature adrenarche is characterised by high excretion rates of metabolites of cortisol and androgen for age and body size.

7 Adrenal suppression.
Steroid metabolites may be suppressed in subjects receiving exogenous glucocorticoids.

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.

Sample 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 the 24 h volume or duration of the collection, age and sex of the patient, clinical details and any relevant treatment.

Reference ranges
The SAS Laboratory will provide appropriate reference data and an interpretation of results based on relevant biochemical and clinical information.

Centres offering this assay
London (King's), London (UCLH).

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