Article
Carrier frequency of congenital adrenal hyperplasia (21-hydroxylase deficiency) in a middle European population.
The Journal of clinical endocrinology and metabolism - 1 Feb 2005
Baumgartner-Parzer S M, Nowotny P, Heinze G, Waldhäusl W, Vierhapper H
Abstract excerpt
Based on newborn screening data, the carrier frequency of congenital adrenal hyperplasia (CAH) in the general population has been estimated to be 1:55. The higher CAH frequency (particularly of milder forms of the disease) reported for certain populations including Yugoslavs (1.6%) relates to population genetic and hormonal data. However, so far, true carrier frequency for CAH due to 21-OH deficiency has not been...
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