Abstract:
:Steroidogenic factor-1 [(SF-1/Ad4BP) (MIM184757)] is a nuclear receptor that regulates multiple genes involved in adrenal and gonadal development, steroidogenesis, reproduction, and other metabolic functions. Initially, mutations of SF-1/Ad4BP gene (NR5A1) in humans were identified in two 46, XY female patients with adrenal insufficiency and gonadal dysgenesis. However, recent studies have revealed that heterozygous mutations are more frequently found in 46, XY disorders of sex development (DSD) patients without adrenal failure than in 46, XY DSD patients with adrenal failure. We encountered a Japanese female patient of 46, XY DSD without adrenal failure and identified a novel mutation (V41G) of NR5A1. Functional analysis revealed that this mutant protein could not activate CYP19 promoter, indicating loss of function. In conclusion, we add a novel mutation of NR5A1 in 46, XY DSD patient without adrenal failure.
journal_name
Endocr Jjournal_title
Endocrine journalauthors
Tajima T,Fujiwara F,Fujieda Kdoi
10.1507/endocrj.k08e-380subject
Has Abstractpub_date
2009-01-01 00:00:00pages
619-24issue
4eissn
0918-8959issn
1348-4540pii
JST.JSTAGE/endocrj/K08E-380journal_volume
56pub_type
杂志文章abstract::Pathogenesis of pseudohypoparathyroidism type 1b (PHP-1b) is related to the loss of methylation at the GNAS exon A/B region, which is combined with epigenetic defects at other differentially methylated GNAS regions in most sporadic cases. In this study, we established a method for evaluating the methylation status of...
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更新日期:2012-01-01 00:00:00
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更新日期:2014-01-01 00:00:00
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