This Article Full Text (PDF) Submit a related Letter to the Editor Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Reprints, Permissions and Rights Citing Articles Citing Articles via Google Scholar Google Scholar Articles by GRIFFING, G. T. Articles by MELBY, J. C. Search for Related Content PubMed PubMed Citation Articles by GRIFFING, G. T. Articles by MELBY, J. C.

Plasma and Urinary 19-Nor-Deoxycorticosterone in 17-Hydroxylase Deficiency Syndrome^*

GEORGE T. GRIFFING, THOMAS E. WILSON, MONIKA M. HOLBROOK, SIDNEY L. DALE, TIMOTHY K. JACKSON, I. ULLRICH and JAMES C. MELBY

Section of Endocrinology and Metabolism, Evans Memorial Department of Clinical Research and Medicine University Hospital, Boston University Medical Center, Boston, Massachusetts 02118 the Department of Medicine West Virginia University, Morgantown, West Virginia 26506

Address requests for reprints to: Dr. James C. Melby, Department of Medicine, University Hospital, 75 East Newton Street, Boston, Massachusetts 02118.

17-hydroxylase deficiency syndrome (17-OHDS) is associated with hypogonadism, hypertension, and hypokalemia. Aldosterone production, however, is not elevated, and therefore, other known or unknown mineralocorticoids must account for the excess in mineralocorticoid activity. This study sought to determine whether 19-nor-deoxycorticosterone (19-nor-DOC), a potent hypertensinogenic mineralocorticoid, was elevated in this syndrome. Plasma and urine from a young woman with 17-OHDS were examined from various corticosteroids before and after ACTH, dexamethasone, and cortisol administration. In the basal state, urinary and plasma 17-hydroxycorticosteroids were decreased, but 17-deoxycorticosteroids were extremely elevated, including corticosterone (B), 18-hydroxy-B (18-OH-B), tetrahydro-B (TH-B), TH-DOC, and 18-OH-TH-DOC. Basal urinary (UF) 19-nor-DOC measured by both high pressure liquid chromatography (4255 ng/day) and RIA [3800 ng/day; normal, 102 ± 27 (±SD), was markedly elevated. UF 19-nor-DOC did not increase further after ACTH administration (4255 ng/day), but it decreased after both dexamethasone (<100 ng/day) and cortisol therapy (612 and 218 ng/day). Basal plasma 19-nor-DOC was elevated and increased after ACTH stimulation (366 pg/ml) and decreased during dexamethasone suppression (6 pg/ml). A plasma 19-nor-DOC precursor that converted to nor-DOC upon acidification (perhaps 19-oic-DOC) also was detectable (172 pg/ml). This study, therefore, demonstrates a marked elevation in UF 19-nor-DOC in 17-OHDS, which could account for some of the excess mineralocorticoid activity in this syndrome.

^* The work was supported by Grants-in-Aid l-ROl-HL-31051, RR-533-NIH, 5-PO-HL-18318, 5-RO1-AM-12027, and 5-P32-HL-07224 from the NIH.

Recipient of a New Investigator Research Award from the NIH (1-R23-HL-31049).

Received March 28, 1984.