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46,XX male sex reversal syndrome:a case report / 中华泌尿外科杂志
Chinese Journal of Urology ; (12)2001.
Article in Chinese | WPRIM | ID: wpr-537387
ABSTRACT
Objective To investigate the manifestations and genetic mechanisms of male sex reversal syndrome. Methods A 22 year old male patient with 46,XX karyotype was systemically examined and a Y specific sequence tagged site (STS),sY14,was chosen to detect sex determining region of Y (SRY) gene by polymerase chain reaction (PCR). Results This patient shows primary and secondary male sex characters while gonads are hypoplastic and malfunctional.The patent has 46,XX karyotype and SRY gene.Therefore,the patient is diagnosed as 46,XX male sex reversal syndrome. Conclusions Translocation of SRY can bring about 46,XX male sex reversal syndrome,whereas gonads of the patients are hypoplastic and malfunctional because of the absence of other genes on Y chromosome.SRY gene plays an important role in sex determination.

Full text: Available Index: WPRIM (Western Pacific) Language: Chinese Journal: Chinese Journal of Urology Year: 2001 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Language: Chinese Journal: Chinese Journal of Urology Year: 2001 Type: Article