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  • Title: Screening for non-classic 21-hydroxylase deficiency in an HLA-B14 positive population.
    Author: Motta P, Airaghi L, Catania A, Mangone I, Orsatti A, Tenconi L, Cantalamessa L, Zanussi C.
    Journal: Acta Endocrinol (Copenh); 1987 Oct; 116(2):211-5. PubMed ID: 2821719.
    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.
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