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BACKGROUND: Clinical samples were distributed on 10 occasions to six UK laboratories that perform urinary steroid profile analysis. Urine samples were from normal adult men and women, normal children and neonates. Samples from patients with Cushing's syndrome, virilization, adrenarche, obesity and congenital adrenal hyperplasia (21 and 17-hydroxylase defects) were also used for evaluation. METHODS: Samples were analysed by capillary column gas chromatography (all laboratories) after hydrolysis of conjugates and derivative formation (five laboratories) or by variation of 17-oxogenic steroid methodology (one laboratory). RESULTS: For each distribution of samples, the performance of the participants was compared for quantitative analysis, and user comments were summarized. Quantitative results showed variation without necessarily biasing the result. Comments varied considerably in length. The interpretations did not always lead to a clear diagnosis or advise about appropriate further tests. CONCLUSIONS: This pilot urine steroid profiling scheme has clearly identified the requirement for external quality assessment. It is now hoped to offer this scheme worldwide in collaboration with the European Research Network for the Evaluation and Improvement of Screening, Diagnosis and Treatment of Inherited Disorders of Metabolism (ERNDIM).

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Under analysis are results of an examination of 56 patients with hormonally non-active tumors of the adrenals, 48 of them were operated upon. In 20 patients (35%) they had clinical manifestations, 16 patients (28%) had an elevated level of the 17-HCS and 17-CS excretion in the 24-hours urine. Morphological investigations of the tumors in 20 patients have revealed clear cell adenomas of the cortical layer of the adrenal, in 19 patients--tumoral cysts, in 3 patients--true cysts, in 1 case-myelolipoma, in 1 case--ganglioneuromyelolipoma, in 4 cases--hormonally non-active carcinomas of the adrenal cortex. The authors propose to designate the new formations described as hormonally non-active tumors of the adrenals. In view of the absence of absolute methods for the identification of malignancy of the tumors the operative treatment of them is proposed.

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Analysis of 24-h urinary steroid excretion was performed by capillary gas chromatography in six patients (five men, one woman) with adrenocortical insufficiency. Ten healthy subjects (five men, five women) served as controls. A complete absence of all 21-hydroxylated steroid metabolites was seen in patients with adrenocortical insufficiency, whereas the excretion of several steroids lacking hydroxylation in the 21-position (pregnenolone, pregnenetriol, and 11-ketoandrosterone) was markedly increased. In addition, the presence of 11 beta-hydroxyandrosterone was confirmed by mass-spectrometry in the urine of three patients. This pattern of steroid excretion was unchanged in patients with adrenocortical insufficiency, both after stimulation by 1-24 adrenocorticotropin (ACTH) and after short-term (3-d) suppression with dexamethasone. We conclude that patients with adrenocortical insufficiency present a pattern of steroid excretion characterized by the absence of 21-hydroxylated metabolites. In the absence of functional adrenocortical tissue, long-term pathologically elevated concentrations of ACTH apparently stimulate early steps of steroid synthesis, most likely in the gonads. In addition, the presence of 11-hydroxylated steroid metabolites (11-ketoandrosterone, 11 beta-hydroxyandrosterone) in the urine of patients with adrenocortical insufficiency demonstrates that chronic ACTH excess in this disorder may induce some activity of 11 beta-hydroxylase, an enzyme not found in the gonads under physiological conditions.

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In order to establish a more reliable profile of the function of the adrenal cortex, a study has been made of this simultaneous estimation of plasma and urinary unconjugated cortisol by competitive protein binding (CPB) radioassay. Both plasma and urinary cortisol were measured by CPB radioassay after solvent extraction. Normal ranges were found for plasma and urinary cortisol. The samples obtained in the morning (8:00 am) established a normal plasma cortisol range of 9.0-21.6 mug% with a mean of 15.3. range for urinary unconjugated cortisol was 12.0-41.5 mug/day (mean 26.9). Dexamethasone suppression and adrenocorticotrophic hormone stimulation of plasma and urinary cortisol were tested with individuals having normal and abnormal adrenal cortical function. RESULTS INDICATED A GOOD CLINICOPATHOLOGICAL CORRELATION. It was concluded that plasma and urinary unconjugated cortisol are reliable laboratory tests for adrenocortical function and would be the methods of choice rather than urinary 17-ketogenic steroids.

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