Journal of Clinical Endocrinology & Metabolism, Vol 70, 1662-1667, Copyright © 1990 by Endocrine Society

ARTICLES

Prevalence of nonclassical steroid 21-hydroxylase deficiency based on a morning salivary 17-hydroxyprogesterone screening test: a small sample study

M Zerah, H Ueshiba, E Wood, PW Speiser, C Crawford, T McDonald, J Pareira, D Gruen and MI New
Department of Pediatrics, New York Hospital-Cornell Medical Center, New York 10021.

Early morning salivary 17 alpha-hydroxyprogesterone (17-OHP) determination differentiates patients with non-classical 21-hydroxylase deficiency (NC21OHD) from those who are not affected. Using this test, we have conducted a trial screening study for NC21OHD and have compared the study results with previously reported figures for the frequency of this disorder. Testing was performed on 258 subjects recruited from among the medical students and employees of the New York Hospital- Cornell Medical Center. In 2 of the 249 admissible subjects, the 0700- 0900 h salivary 17-OHP level was within the range for NC21OHD patients (0.72-6.7 nmol/L; n = 8). These 2 individuals were subsequently confirmed to be affected by ACTH testing. Of the subjects with morning salivary 17-OHP levels below the cut-off point of 0.72 nmol/L, 29 were recalled for ACTH testing and were confirmed to be unaffected. Prevalence of NC21OHD in the test population was determined according to ethnic group. Our study gives a prevalence by screening of 1.14% among caucasians, which agrees with values of 0.81% and 1.06% obtained by different analytical methods. Further, both affected subjects were Ashkenazi Jews, and the prevalence of 3.23% among study members from this group concurs with increased rates of 3.64% and 4.97% already reported. On the basis of a small population sample, screening so far confirms the claim that NC21OHD is the most common autosomal recessive human disorder. Using values from ACTH-proven unaffected subjects (n = 47) and NC21OHD patients (n = 10), we establish preliminary normative data for morning salivary 17-OHP levels of 0.172 nmol/L for unaffected subjects (95% confidence interval, 0.05-0.54 nmol/L) and 1.76 nmol/L for NC21OHD-affected subjects (95% confidence interval, 0.42-7.32 nmol/L).

This article has been cited by other articles:

				M. I. New Nonclassical 21-Hydroxylase Deficiency J. Clin. Endocrinol. Metab., November 1, 2006; 91(11): 4205 - 4214. [Abstract] [Full Text] [PDF]

				D. Keen-Kim, J. B. Redman, R. U. Alanes, M. M. Eachus, R. C. Wilson, M. I. New, J. M. Nakamoto, and R. G. Fenwick Validation and Clinical Application of a Locus-Specific Polymerase Chain Reaction- and Minisequencing-Based Assay for Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) J. Mol. Diagn., May 1, 2005; 7(2): 236 - 246. [Abstract] [Full Text] [PDF]

				G. Pinto, V. Tardy, C. Trivin, C. Thalassinos, S. Lortat-Jacob, C. Nihoul-Fekete, Y. Morel, and R. Brauner Follow-Up of 68 Children with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Relevance of Genotype for Management J. Clin. Endocrinol. Metab., June 1, 2003; 88(6): 2624 - 2633. [Abstract] [Full Text] [PDF]

				P. C. White and P. W. Speiser Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Endocr. Rev., June 1, 2000; 21(3): 245 - 291. [Abstract] [Full Text]

				M. I. New and R. C. Wilson Steroid disorders in children: Congenital adrenal hyperplasia and apparent mineralocorticoid excess PNAS, October 26, 1999; 96(22): 12790 - 12797. [Abstract] [Full Text] [PDF]