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Identification of enzyme deficiencies resulting in congenital adrenal hyperplasia
12nd Department of Pediatrics, Semmelweis Medical University, Budapest.
Abstract:
Selective screening for congenital adrenal hyperplasia (CAH) by blood spot 17-hydroxyprogesterone measurements is a practical option than can yield valuable clinical information and more accurate estimate of incidence. Simultaneous investigation of serum and urinary steroids allows detection of late-onset types of CAH.