To evaluate whether HLA-B14 positive individuals are at increased risk for non-classic 21-hydroxylase deficiency, the response to progesterone and 17-hydroxyprogesterone to ACTH stimulation test was studied in a group of 27 apparantly normal, HLA-B14 positive, blood donors. Four of these subjects showed a response typical of 21-hydroxylase defect. In the present series, the enzymatic defect was found to have a considerably lower prevalence than in a previous study of smaller size (15% vs 66%); however, considering the low frequency of the gene coding for the defect in the general population (0.015-0.057), the present results confirm an increased risk for non-classic 21-hydroxylase deficiency in HLA-B14 positive individuals. Therefore, in the subjects, a screening for 21-hydroxylase deficiency may be indicated.
|Number of pages||5|
|Publication status||Published - 1987|
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