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More than 90% of cases are caused by 21-hydroxylase deficiency, and the severity of the resulting clinical symptoms varies according to the level of 21-hydroxylase activity. 21-Hydroxylase deficiency is usually caused by mutations in the<jats:italic>CYP21A2<\/jats:italic>gene, which is located on the RCCX module, a chromosomal region highly prone to genetic recombination events that can result in a wide variety of complex rearrangements, such as gene duplications, gross deletions and gene conversions of variable extensions. Molecular genotyping of<jats:italic>CYP21A2<\/jats:italic>and the RCCX module has proved useful for a more accurate diagnosis of the disease, and prenatal diagnosis. This article summarises the clinical features of 21-hydroxylase deficiency, explains current understanding of the disease at the molecular level, and highlights recent developments, particularly in diagnosis.<\/jats:p>","DOI":"10.1017\/s1462399407000300","type":"journal-article","created":{"date-parts":[[2007,4,30]],"date-time":"2007-04-30T08:06:12Z","timestamp":1177920372000},"page":"1-23","source":"Crossref","is-referenced-by-count":18,"title":["Congenital adrenal hyperplasia: focus on the molecular basis of 21-hydroxylase 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