Congenital Adrenal Hyperplasia

New congenital adrenal hyperplasia research reported from M. Bidet and co-authors

Published in OBGYN and Reproduction Week, June 22nd, 2009

According to recent research from Paris, France, "Nonclassical congenital adrenal hyperplasia (NC-CAH) due to partial 21-hydroxylase deficiency is one of the most frequent autosomal recessive diseases. The aim of this study was to determine the genotype/phenotype relationship in pro-bands and family members."

"A total of 161 NC-CAH unrelated women diagnosed on late-onset symptoms, mainly hirsutism, and post-ACTH 17-hydroxyprogesterone more than 10 ng/ml, and 330 of their relatives was explored. CYP21A2 was genotyped in 124 probands. The most frequent mutation was V281L. One severe mutation was found in 63.7% of probands, and surprisingly two severe mutations in four...

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Source: OBGYN and Reproduction Week (2009-06-22)

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