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We aimed at measuring the first plasma concentrations of 17-hydroxyprogesterone (17OH-P) determined by benchtop isotope dilution/gas chromatography-mass spectrometry (ID/GC-MS) in term neonates with or without 21-hydroxylase deficiency. Plasma samples from normal cord blood specimens (n=30), unaffected neonates (n=38) and neonatal patients with classical 21-hydroxylase deficiency (eight salt-wasters, three simple virilizers) were analyzed. Steroid profiling of random urinary specimens by GC-MS served as a confirmatory test for 21-hydroxylase deficiency. 17OH-P (nmol/l) in cord blood plasma lay between 11.66 and 75.92 (median 24.74). It declined shortly after birth. In the first 8 days of life, the time that screening for 21-hydroxylase deficiency is performed, 17OH-P ranged between undetected levels and an upper limit of 22.87 (median 4.11). Thereafter (days 9-28) its concentrations lay between 2.18 and 20.30 (median 6.22). Except one simple virilizer, all other patients with 21-hydroxylase deficiency had clearly elevated plasma 17OH-P at the time that screening for 21-hydroxylase deficiency would be performed. We suggest ID/GC-MS, which provides the highest specificity in steroid analysis, for checking suspicious concentrations of 17OH-P in neonates and underscore the potential of urinary steroid profiling by GC-MS as a rapid, non-invasive and non-selective confirmatory test for congenital adrenal hyperplasia.
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SUMMARY
The influence of age and sex on the cortisol content of adrenals, liver, kidney, lung, heart, spleen, muscle, cerebrum, brain stem and blood was studied in white guinea-pigs.
In prepuberal animals no significant difference between sexes was found in the cortisol content of different tissues. In adult female animals, the blood cortisol level was significantly higher than in the male animals. Significantly more cortisol was found in kidneys of adult male than of female animals.
In adult guinea-pigs, the cortisol content was lower in every tissue examined, except liver, compared with young animals. These differences were highly significant. In female guinea-pigs the decrease in tissue cortisol content with age was more pronounced than in male animals.
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SUMMARY
The effect of genetic difference (white v. coloured) on the cortisol content of ten different organs and tissues, including the adrenals, of white and coloured guinea-pigs of both sexes and of different ages was studied by protein-binding techniques. Tissue cortisol concentration was significantly higher in all the tissues and adrenals of white animals of both sexes compared with coloured animals. The difference in tissue cortisol content between white and coloured animals was higher before (range 41·5–134·%) than after puberty (range 10·1–82·5%). The age-dependent decrease of cortisol concentration in different tissues and adrenals in adults was more marked in white guinea-pigs of both sexes (mean 30·6%, range 0·0–71·5%) than in coloured (mean 16·9%, range 0·0–63·1%). In adult animals the liver contained significantly 11·8–36·4%) more cortisol than in prepubertal animals. This pattern was the same in white and coloured guinea-pigs of both sexes.
