title: Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive.
abstract: BACKGROUND
  To review the possible mechanisms proposed to explain the etiology of 46, XX sex reversal by investigating the clinical characteristics and their relationships with chromosomal karyotype and the SRY(sex-determining region Y)gene.
  
  
  METHODS
  Five untreated 46, XX patients with SRY-positive were referred for infertility. Clinical data were collected, and Karyotype analysis of G-banding in lymphocytes and Fluorescence in situ hybridization (FISH) were performed. Genomic DNA from peripheral blood of the patients using QIAamp DNA Blood Kits was extracted. The three discrete regions, AZFa, AZFb and AZFc, located on the long arm of the Y chromosome, were performed by multiplex PCRs(Polymerase Chain Reaction) amplification. The set of PCR primers for the diagnosis of microdeletion of the AZFa, AZFb and AZFc region included: sY84, sY86, sY127, sY134, sY254, sY255, SRY and ZFX/ZFY.
  
  
  RESULTS
  Our five patients had a lower body height. Physical examination revealed that their testes were small in volume, soft in texture and normal penis. Semen analyses showed azoospermia. All patients had a higher follicle-stimulating hormone(FSH), Luteinizing Hormone(LH) level, lower free testosterone, testosterone level and normal Estradiol, Prolactin level. Karyotype analysis of all patients confirmed 46, XX karyotype, and FISH analysis showed that SRY gene were positive and translocated to Xp. Molecular analysis revealed that the SRY gene were present, and the AZFa, AZFb and AZFc region were absent.
  
  
  CONCLUSIONS
  This study adds cases on the five new 46, XX male individuals with SRY-positive and further verifies the view that the presence of SRY gene and the absence of major regions in Y chromosome should lead to the expectance of a completely masculinised phenotype, abnormal hormone levels and infertility.
authors.forename: Qiu-Yue
authors.initials: QY
authors.lastname: Wu
authors.forename: Na
authors.initials: N
authors.lastname: Li
authors.forename: Wei-Wei
authors.initials: WW
authors.lastname: Li
authors.forename: Tian-Fu
authors.initials: TF
authors.lastname: Li
authors.forename: Cui
authors.initials: C
authors.lastname: Zhang
authors.forename: Ying-Xia
authors.initials: YX
authors.lastname: Cui
authors.affiliation: Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, 305 East Zhongshan Road, Nanjing 210002, PR China. xinyixia78@gmail.com.
authors.forename: Xin-Yi
authors.initials: XY
authors.lastname: Xia
authors.forename: Jin-Sheng
authors.initials: JS
authors.lastname: Zhai
mesh_terms: D058531:46, XX Testicular Disorders of Sex Development / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics; D017353:Gene Deletion; D024282:Genes, sry; D012739:Gonadal Steroid Hormones / Q000097:blood; D006065:Gonadotropins, Pituitary / Q000097:blood; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D016133:Polymerase Chain Reaction; D014178:Translocation, Genetic
chemical_list: D012739:Gonadal Steroid Hormones; D006065:Gonadotropins, Pituitary