[Identification of congenital adrenal hyperplasia by measurement of blood-spot 17-hydroxyprogesterone].

UNLABELLED

Identification of congenital adrenal hyperplasia by measurement of blood-spot 17-hydroxyprogesterone.

INTRODUCTION

21-hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia (CAH). The simplest way to diagnose the disease is the measurement of 17-hydroxyprogesterone level in the serum.

AIMS

The aim of the study was to analyze the clinical advantages of a centralized diagnostic strategy in Hungary using measurement of 17-hydroxyprogesterone in dried blood spots.

METHODS

During a 20 years period blood-spot samples of 1837 patients suspected to have CAH have been investigated.

RESULTS

185 patients proved to have CAH (classic 21-OHD 155; NCAH 27; 11beta-OHD 3 patients). A national database for CAH was set up by collecting further information about CAH patients in the country. Based on the frequency of the disease in girls during the nineties, the incidence of classical 21-OHD was calculated to be 1:11,147 in Hungary.

CONCLUSIONS

Early diagnosis, optimal medical and surgical treatment, and attention to compliance may lead to further decrease in morbidity and mortality of CAH patients.