Clinical Chemistry
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Clinical Chemistry 29: 48-50, 1983;
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Clinical Chemistry, Vol 29, 48-50, Copyright © 1983 by American Association for Clinical Chemistry

Heterozygote detection in congenital adrenal hyperplasia

DJ Handelsman, CJ Howe, AJ Conway and JR Turtle

Detection of heterozygote carriers for congenital adrenal hyperplasia by use of a modified tetracosactide (a synthetic corticotropin) stimulation test with prior overnight dexamethasone suppression proved to have a diagnostic accuracy of 95%. Discrimination of heterozygotes from normals was best when we used a criterion based on the ratios of 17 alpha-hydroxyprogesterone to cortisol at baseline and at 30 min after intravenous administration of 250 micrograms of tetracosactide.


The following articles in journals at HighWire Press have cited this article:


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E. Charmandari, D. P. Merke, P. J. Negro, M. F. Keil, P. E. Martinez, A. Haim, P. W. Gold, and G. P. Chrousos
Endocrinologic and Psychologic Evaluation of 21-Hydroxylase Deficiency Carriers and Matched Normal Subjects: Evidence for Physical and/or Psychologic Vulnerability to Stress
J. Clin. Endocrinol. Metab., May 1, 2004; 89(5): 2228 - 2236.
[Abstract] [Full Text] [PDF]

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 J. Clin. Endocrinol. Metab.Home page
E. S. Knochenhauer, C. Cortet-Rudelli, R. D. Cunnigham, B. A. Conway-Myers, D. Dewailly, and R. Azziz
Carriers of 21-Hydroxylase Deficiency Are Not at Increased Risk for Hyperandrogenism
J. Clin. Endocrinol. Metab., February 1, 1997; 82(2): 479 - 485.
[Abstract] [Full Text] [PDF]


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