Limited Value of Serum Steroid Measurements in Identification of Mild Form of 21-Hydroxylase Deficiency

D. Török; Z. Halász; M. Garami; J. Homoki; G. Fekete; J. Sólyom

doi:10.1055/s-2003-37497

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Exp Clin Endocrinol Diabetes 2003; 111(1): 27-32
DOI: 10.1055/s-2003-37497

Article

J. A. Barth Verlag in Georg Thieme Verlag Stuttgart · New York

Limited Value of Serum Steroid Measurements in Identification of Mild Form of 21-Hydroxylase Deficiency

D. Török¹ , Z. Halász¹ , M. Garami¹ , J. Homoki² , G. Fekete¹ , J. Sólyom¹

¹2nd Department of Paediatrics, Faculty of Medicine, Semmelweis University, Budapest, Hungary
²Department of Paediatrics, University of Ulm, Ulm, Germany

Further Information

Publication History

Received: June 7, 2001 First decision: August 21, 2001

Accepted: May 30, 2002

Publication Date:
26 February 2003 (online)

Also available at

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Abstract

Background

ACTH stimulation test is widely used as a basic diagnostic method for non-classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD). However, the interpretation of this test has not been definitely established. To determine the cut-off values of basal and post-ACTH serum 17-OHP concentrations, data of patients with suspected 21-OHD has been analysed.

Patients and Methods

Two hundred and eighty-seven patients with postnatal/peripubertal virilization were investigated. Serum steroid concentrations were measured by RIA, urinary steroid profile was determined by capillary gas chromatography and mutation analysis of CYP21 gene was performed by allele specific PCR. 21-OHD was diagnosed by elevated serum 17-OHP concentrations, high level of the urinary 17-OHP metabolites and/or homozygosity for CYP21 mutations.

Results

Twenty-one patients of the total of 287 subjects (7.3 %) were identified as having 21-OHD. The numbers of 21-OHD patients compared to total numbers of patients with different ranges of serum 17-OHP were as follows: basal values below 3.5 ng/ml (mean + 1 SD) 0/225; between 3.5 - 6.6 ng/ml 3/41; above 6.6 ng/ml (mean + 2 SD) 18/21. Post-ACTH values below 6.4 ng/ml (mean + 1 SD) 0/226, between 6.4 - 10.3 ng/ml 0/35, above 10.3 ng/ml (mean + 2 SD) 21/26.

Conclusion

There are patients with inappropriate peripubertal virilization who have slightly elevated 17-OHP concentrations. In this subgroup of patients more sensitive and specific methods are needed to establish the diagnosis of 21-OHD. Therefore we suggest performing an ACTH stimulation test in patients with a morning 17-OHP level above 3.5 ng/ml. Furthermore, urinary steroid profile and/or CYP21 gene analysis are needed in patients with a stimulated 17-OHP value between 10 and 30 ng/ml. These tests will distinguish between patients with non-classical 21-OHD and patients with other disorders.

Key words

Congenital adrenal hyperplasia - 21-hydroxylase deficiency - Serum 17-hydroxyprogesterone - ACTH stimulation

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J. Sólyom

2nd Department of Paediatrics · Faculty of Medicine · Semmelweis University

Tűzoltó u. 7 - 9

Budapest H-1094

Hungary

Fax: +36/(1)2175770

Email: soljan@gyer2.sote.hu