ABSTRACT
Objective To analyze the clinical,endocrinal and genetic features of 46,XX male syndrome. Methods Retrospectively collect and analyze the clinical data of 4 cases of 46,XX male sex reversal syndrome. Results Four patients were all sociopsychologically males.Among them,2 cases had cryptorchidism,3 hypospadia and 1 severe chordee with short urethra.Neither ovary nor uterus was detected through B ultrasonography or surgical exploration.Assessment of serum sex hormone suggested hypergonadotropic hypogonadism.Genetic detection indicated 46,XX karyotype as normal female's type. Conclusions 46,XX male has nearly normal male phenotype otherwise with testes dysgenesis and most are infertile.The target of treatment is to correct the urinogenital malformation and to compensate hormone defect with androgen.
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.