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A Case of XX Male Syndrome with Anophthamia
Article 在 Ko | WPRIM | ID: wpr-146412
Responsible library: WPRO
ABSTRACT
XX male has a male phenotype with testes or gonads of testicular type and a female chromosomal constitution of 46, XX with no evidence of either ovarian tissue or female genital organs. Generally, they have normal male genitalia and all are infertile. We experienced a neonate with anophthalmia, hypospadia, small penis, and normal testes, whose chromosomal analysis demonstrated 46, XX. Polymerase chain reaction revealed the existence of a sex-determining region of Y (SRY). These findings suggest that the translation of an SRY on the X chromosome led to the development of a male phenotype. We report the case with a review of the related literature.
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全文: 1 索引: WPRIM 主要主题: Penis / Phenotype / Testis / X Chromosome / Anophthalmos / Polymerase Chain Reaction / Constitution and Bylaws / 46, XX Testicular Disorders of Sex Development / Genitalia, Female / Genitalia, Male 限制: Female / Humans / Male / Newborn 语言: Ko 期刊: Journal of the Korean Society of Neonatology 年: 2001 类型: Article
全文: 1 索引: WPRIM 主要主题: Penis / Phenotype / Testis / X Chromosome / Anophthalmos / Polymerase Chain Reaction / Constitution and Bylaws / 46, XX Testicular Disorders of Sex Development / Genitalia, Female / Genitalia, Male 限制: Female / Humans / Male / Newborn 语言: Ko 期刊: Journal of the Korean Society of Neonatology 年: 2001 类型: Article