Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia.

@article{Nakae1997AnalysisOT,
  title={Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia.},
  author={Jun Nakae and Toshihiro Tajima and Teruo Sugawara and Futoshi Arakane and Keiichi Hanaki and Tomoyuki Hotsubo and Noboru Igarashi and Yutaka H. Igarashi and Toshihiro Ishii and Noriko Koda and Toshiaki Kondo and Hirao Kohno and Yuichi Nakagawa and Katsuhiko Tachibana and Yasuhiro Takeshima and Kouji Tsubouchi and Jerome F Strauss and Kenji Fujieda},
  journal={Human molecular genetics},
  year={1997},
  volume={6 4},
  pages={
          571-6
        }
}
Genomic DNA from 19 Japanese patients with congenital lipoid adrenal hyperplasia (lipoid CAH) representing 16 different families was examined to identify the genetic alterations of steroidogenic acute regulatory protein (StAR). Ten of 19 patients had a 46,XX karyotype and nine had a 46,XY karyotype. Six of the 46,XX patients have experienced spontaneous pubertal changes including breast development and irregular menstruation whereas none of the 46,XY subjects displayed pubertal changes. Eight… CONTINUE READING

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