Gourmelen M, Gueux B, Pham Huu Trung M T, Fiet J, Raux-Demay M C, Girard F
Laboratoire d'Explorations Fonctionnelles Endocriniennes, Hôpital Trousseau, Paris.
Acta Endocrinol (Copenh). 1987 Dec;116(4):507-12. doi: 10.1530/acta.0.1160507.
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.
