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

P. Motta, L. Airaghi, A. Catania, I. Mangone, A. Orsatti, L. Tenconi, L. Cantalamessa, C. Zanussi

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)211-215
Number of pages5
JournalActa Endocrinologica
Volume116
Issue number2
Publication statusPublished - 1987

ASJC Scopus subject areas

  • Endocrinology

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