## Abstract Steroid 21‐hydroxylase deficiency is present in more than 90% of patients with congenital adrenal hyperplasia (CAH), an inherited metabolic disorder of adrenal steroidogenesis. Impaired enzymatic activity leads to the accumulation of metabolic intermediates (progesterone and 17‐hydroxyp
Structural and functional analysis of a novel mutation of CYP21B in a heterozygote carrier of 21-hydroxylase deficiency
✍ Scribed by Jörg Bojunga; Christoph Welsch; Iris Antes; Mario Albrecht; Thomas Lengauer; Stefan Zeuzem
- Publisher
- Springer
- Year
- 2005
- Tongue
- English
- Weight
- 459 KB
- Volume
- 117
- Category
- Article
- ISSN
- 0340-6717
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📜 SIMILAR VOLUMES
Congenital adrenal hyperplasia due to 21hydroxylase deficiency is a common autosomal-recessive disorder. During our routine genotyping of affected individuals and their relatives using allele-specific oligonucleotide hybridization and single-strand conformational polymorphism analysis, we identified
Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disease with a wide range of clinical manifestation. In 90-95% of the cases it is caused by 21-hydroxylase deficiency (OMIM #201910) due to mutations of the CYP21 gene (GDB Accession #M12792). In most cases the CYP21-inactivating p