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緒言
Dysgenetic male pseudohermaphroditism (以下DMHと略す)は,1967年Federman1)が提唱して以来,報告されるようになつたが,その病態は混合型生殖腺形成不全症と類似する。われわれは最近DMHの1例を経験し,症例を供覧するとともに45X/46XYモザイク症例につき集計し検討したので報告する。
The patients was 3 years old reared as female, whose external genitalia was feminine excepting clitoral enlargement. Chromosomal analysis revealed 45X/46XYq- mosaicism. Intraabdominal gonads and ductal structures removed at exploratory laparotomy were found to be dysgenetic testes and persistent internal mullerian duct structures, respectively. Based on these findings, diagnosis of the case was concluded as dysgenetic male pseudohermaphroditism (DMH) as defined by Federman in 1967. Survey of literature on 45 X/46 XY mosaicism suggested that the incidence of DMH could very well be higher than to be expected.
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