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Prevalence of Nonclassical Steroid 21-Hydroxylase Deficiency Based on a Morning Salivary 17-hydroxyprogesterone Screening Test: A Small Sample Study^*

Department of Pediatrics, Division of Pediatric Endocrinology, The New York Hospital-Cornell Medical Center New York, New York 10021

Address all correspondence and requests for reprints to: Michele Zerah, M.D., Department of Pediatrics, Division of Pediatric Endocrinology, 525 East 68th Street, N-236 New York, New York 10021.

Early morning salivary 17-hydroxyprogesterone (17-OHP) determination differentiates patients with nonclassical 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 NC2lOHD-affected subjects (95% confidence interval, 0.42–7.32 nmol/L).

^* This work was supported by USPHS NIH Awards HL-07129, HD-00072, and RR-00047. Presented at the 71st Annual Meeting of The Endocrine Society, Seattle, WA, June 21–24,1989.

¹Before large scale screening of the population, estimates of the frequency of this disorder were made as follows. Ethnic group-specific

Received August 4, 1989.

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