46,XX male sex reversal syndrome:a case report
- VernacularTitle:46,XX男性性别逆转综合征(附一例报告)
- Author:
Liang REN
;
Jie JIN
;
Gangzhi SHAN
- Publication Type:Journal Article
- Keywords:
Sex reversal,gonadal;
Genes;
Diagnosis
- From:
Chinese Journal of Urology
2001;0(11):-
- CountryChina
- Language:Chinese
-
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.
