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  • 标题:5-Alfa Reductase Deficiencies Presenting as Penis at 12 Syndrome - A Case Report
  • 作者:Sangeeta Aher ; Ashok Kumar ; A Diwan
  • 期刊名称:Bombay Hospital Journal
  • 印刷版ISSN:0524-0182
  • 出版年度:2007
  • 卷号:49
  • 期号:04
  • 出版社:Bombay Hospital Institute of Medical Sciences
  • 摘要:

    is also described as pseudohermaphrodism with normal virilisation at puberty. 5 Alfa reductase deficiency presents with ambiguous genetalia with small hypospadiac phallus, blind vaginal pouch with normal testis and woolfian duct and absent mullerian ducts. It has a 46 XY karyotype and autosomal recessive disorder. The child is usually raised as female and at puberty she shows signs of virilisation and changed gender identity of incomplete masculine male due to 5 Alfa reductase deficiencies.

  • 关键词:Autosomal Recessive Disorder;Karyotype
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