Clin Endocrinol (Oxf). 2013 Aug 8;
Chu X, Ding H, Cui G, Xu Y, Wang DW, He Y
Most of patients with 21-hydroxylase deficiency (21-OHD) are compound heterozygotes or homozygotes, but heterozygous carriers for CYP21A2 mutations and even no disease-causing mutations in the CYP21A2 allele have been detected in some patients with clinically and biochemically diagnosed 21-OHD. Recently, we indentified a novel point mutation c.446 G>C (p.R149P) in exon 4 in a female patient with hyperandrogenism and her father. The patient came from a family of consanguineous marriage and saw an endocrinologist at age 34 because of infertility. She had an uneventful history and her karyotype was 46 xx. Hormonal determinations demonstrated elevated levels of ACTH 22.42 (normal range,1.6-13.9 pmol / l), total testosterone 7.01 (normal range, 0.45-3.75 nmol / l). This article is protected by copyright. All rights reserved.
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Chu X, Ding H, Cui G, Xu Y, Wang DW, He Y
Most of patients with 21-hydroxylase deficiency (21-OHD) are compound heterozygotes or homozygotes, but heterozygous carriers for CYP21A2 mutations and even no disease-causing mutations in the CYP21A2 allele have been detected in some patients with clinically and biochemically diagnosed 21-OHD. Recently, we indentified a novel point mutation c.446 G>C (p.R149P) in exon 4 in a female patient with hyperandrogenism and her father. The patient came from a family of consanguineous marriage and saw an endocrinologist at age 34 because of infertility. She had an uneventful history and her karyotype was 46 xx. Hormonal determinations demonstrated elevated levels of ACTH 22.42 (normal range,1.6-13.9 pmol / l), total testosterone 7.01 (normal range, 0.45-3.75 nmol / l). This article is protected by copyright. All rights reserved.
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