help button home button Endocrine Society JCEM
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Journal of Clinical Endocrinology & Metabolism, doi:10.1210/jc.2006-0469
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow All Versions of this Article:
91/10/4179    most recent
Author Manuscript (PDF)
Right arrow Submit a related Letter to the Editor
Right arrow Purchase Article
Right arrow View Shopping Cart
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow Request Copyright Permission
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Ergun-Longmire, B.
Right arrow Articles by New, M. I.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Ergun-Longmire, B.
Right arrow Articles by New, M. I.
Related Collections
Right arrow Adrenal and Hypertension
Right arrow Pediatric Endocrinology
The Journal of Clinical Endocrinology & Metabolism Vol. 91, No. 10 4179-4182
Copyright © 2006 by The Endocrine Society

BRIEF REPORT

Two Novel Mutations Found in a Patient with 17{alpha}-Hydroxylase Enzyme Deficiency

Berrin Ergun-Longmire, Richard Auchus, Mahboubeh Papari-Zareei, Susan Tansil, Robert C. Wilson and Maria I. New

Department of Pediatrics (B.E.-L., S.T., R.C.W., M.I.N.), Mount Sinai School of Medicine, New York, New York 10029; and Department of Internal Medicine (R.A., M.P.-Z.), Division of Endocrinology and Metabolism, and Donald W. Reynolds Cardiovascular Clinical Research Center, University of Texas Southwestern Medical School, Dallas, Texas 75390

Address all correspondence and requests for reprints to: Maria I. New, M.D., Mount Sinai School of Medicine, Department of Pediatrics, 1 Gustave L. Levy Place, Box 1198, New York, NY 10029. E-mail: maria.new{at}mssm.edu.

Context: Congenital adrenal hyperplasia resulting from 17{alpha}-hydroxylase deficiency (17OHD) is a rare disorder associated with hypertension.

Subject and Methods: We describe a phenotypically and hormonally affected female patient with 17OHD. DNA sequencing of her CYP17 gene revealed a maternal heterozygous mutation in exon 2 (R125Q) and a paternal heterozygous mutation in exon 8 (R416H). These are novel mutations in the CYP17 gene that completely eliminate enzyme activity.

Conclusion: Identification of novel mutations in the CYP17 gene is vital in understanding the molecular mechanisms of its deficiency and in providing additional information about the structure and enzymatic functions of P450c17.




This article has been cited by other articles:


Home page
 J. Clin. Endocrinol. Metab.Home page
S. Rosa, C. Duff, M. Meyer, M. Lang-Muritano, G. Balercia, M. Boscaro, A. Kemal Topaloglu, R. Mioni, F. Fallo, L. Zuliani, et al.
P450c17 Deficiency: Clinical and Molecular Characterization of Six Patients
J. Clin. Endocrinol. Metab., March 1, 2007; 92(3): 1000 - 1007.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Endocrinology Endocrine Reviews J. Clin. End. & Metab.
Molecular Endocrinology Recent Prog. Horm. Res. All Endocrine Journals
Copyright © 2006 by The Endocrine Society