Screening for non-classic 21-hydroxylase deficiency in an HLA-B14 positive population.

Abstract

To evaluate whether HLA-B14 positive individuals are at increased risk for non-classic 21-hydroxylase deficiency, the response of progesterone and 17-hydroxyprogesterone to ACTH stimulation test was studied in a group of 27 apparently 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 these subjects, a screening for 21-hydroxylase deficiency may be indicated.

Cite this paper

@article{Motta1987ScreeningFN, title={Screening for non-classic 21-hydroxylase deficiency in an HLA-B14 positive population.}, author={Patricia Motta and Lorena Airaghi and Anna P. Catania and Iolanda Mangone and Alessandra Orsatti and L. T. Tenconi and Luigi Cantalamessa and Carlo Zanussi}, journal={Acta endocrinologica}, year={1987}, volume={116 2}, pages={211-5} }