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Nonclassic Congenital Adrenal Hyperplasia

DOI: 10.1155/2010/625105

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Abstract:

Nonclassic congenital adrenal hyperplasia (NCAH) due to P450c21 (21-hydroxylase) deficiency is a common autosomal recessive disorder due to mutations in the CYP21A2 gene. This disorder was first described in 1957 by Decourt et al. [1]. Reported prevalences in women with androgen excess range from 0.6% to 9% (Table 1). Higher prevalences have been reported in Ashkenazi Jewish, Mediterranean, Middle-Eastern and Indian populations. Reported gene frequencies vary among ethnic groups and geographic region [2, 3].NCAH due to mutations in other steroidogenic enzyme genes, such as 11-hydroxylase (CYP11B1) and 3-hydroxysteroid dehydrogenase (HSD3B2), is extremely rare [4, 5]. The phenotypic spectrum for mutations in the cytochrome P450 oxidoreductase (POR) gene has been expanded to include amenorrhea, infertility, and low sex steroid hormone levels [6]. Partial loss of function missense mutations in the steroidogenic acute regulatory protein (StAR) gene has been associated with nonclassic lipoid adrenal hyperplasia; mutations in the ACTH receptor (MC2R) gene or the melanocortin 2 receptor accessory protein (MRAP) gene are associated with phenotypes similar to nonclassic lipoid adrenal hyperplasia [7]. This review will focus on NCAH due to CYP21A2 mutations.To date, 127 mutations have been reported in CYP21A2 (http://www.hgmd.cf.ac.uk/ webcite); these mutations range from complete loss of enzyme function to partial enzyme activity. Most of the mutations result from recombination between the active gene, CYP21A2, and its highly homologous non-functional pseudogene, CYP21A1P(i.e., gene conversion), which is located in close proximity within the HLA region on chromosome 6p21.3. Nevertheless, approximately 10–12 mutations account for the majority of the affected alleles. The majority of the CYP21A2 mutations reported to date are associated with simple virilizing or salt-wasting classic congenital adrenal hyperplasia (CAH). Functional studies indicate that these mutations result i

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