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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Detection of heterozygous carriers for 21-hydroxylase deficiency by plasma 21-deoxycortisol measurement.

Using a highly specific radioimmunoassay recently described, plasma 21-deoxycortisol levels were measured in 55 heterozygous carriers of 21-hydroxylase deficiency (as demonstrated by HLA typing). Mean baseline 21-deoxycortisol levels were above the normal range, but there was a 38% overlap with control values. In contrast to 17-hydroxyprogesterone levels, which in 71% of the subjects remained within the normal range one hour after ACTH stimulation, 21-deoxycortisol levels increased over stimulated control levels in all but two heterozygous carriers. No differences as to the levels were observed between heterozygous carriers for the classic and the late-onset forms. Plasma 21-deoxycortisol measurement appears to be a valid tool in the biological detection of heterozygosity for 21-hydroxylase deficiency and its implications in genetic counselling.[1]

References

  1. Detection of heterozygous carriers for 21-hydroxylase deficiency by plasma 21-deoxycortisol measurement. Gourmelen, M., Gueux, B., Pham Huu Trung, M.T., Fiet, J., Raux-Demay, M.C., Girard, F. Acta Endocrinol. (1987) [Pubmed]
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