title: [Clinical, molecular and cytogenetic studies on 4 patients with 46, XX (SRY positive) male syndrome].
abstract: OBJECTIVE
  To analyze the clinical, molecular and cytogenetic features of 46, XX (SRY positive) male syndrome.
  
  
  METHODS
  The clinical features of 4 patients with 46, XX (SRY positive) male syndrome were analyzed retrospectively. Karyotyping, FISH, PCR amplification of the SRY gene, and Y-chromosome microdeletion were performed to study their molecular cytogenetic features.
  
  
  RESULTS
  The Four patients were all sociopsychologically males of short stature and came to hospital for infertility. Physical examination revealed that their testes were small in volume and soft in texture, but their penes were normal. Semen analyses showed complete azoospermia. Detection of serum sexual hormone suggested hypergonadotropic hypogonadism. All were karyotyped as 46, XX. Molecular analyses revealed the presence of the SRY gene and absence of AZFa, b and c of the Y chromosome. FISH analysis showed that SRY genes were translocated to Xp in 3 of the patients.
  
  
  CONCLUSIONS
  Phenotypically 46, XX (SRY positive) male patients are males generally, for the presence of the SRY gene in the whole genome and azoospermia due to the deletion of AZF. The clinical characteristics of the patient include testis dysgenesis, infertility and short stature. The long arm of the Y chromosome might contain the gene associated with body height. Extensive molecular and cytogenetic studies on 46, XX male syndrome may help to elucidate its genotype-phenotype relation.
authors.affiliation: Department of Reproduction & Genetics, PLA Research Institute of Clinical Laboratory Medicine, School of Clinical Medicine Nanjing University Medical College, Nanjing General Hospital of Nanjing Command, PLA, Nanjing, 210002 Jiangsu, China. xiaxy@androl.cn
authors.forename: Xin-Yi
authors.initials: XY
authors.lastname: Xia
authors.forename: Ying-Xia
authors.initials: YX
authors.lastname: Cui
authors.forename: Hong-Yong
authors.initials: HY
authors.lastname: Lu
authors.forename: Bin
authors.initials: B
authors.lastname: Yang
authors.forename: Guo-Hong
authors.initials: GH
authors.lastname: Wang
authors.forename: Lian-Jun
authors.initials: LJ
authors.lastname: Pan
authors.forename: Bao-Shan
authors.initials: BS
authors.lastname: Hou
authors.forename: Yi-Feng
authors.initials: YF
authors.lastname: Ge
authors.forename: Yong
authors.initials: Y
authors.lastname: Shao
authors.forename: Bing
authors.initials: B
authors.lastname: Yao
authors.forename: Yu-Feng
authors.initials: YF
authors.lastname: Huang
mesh_terms: D000328:Adult; D001827:Body Height; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics; D004958:Estradiol / Q000097:blood; D005640:Follicle Stimulating Hormone / Q000097:blood; D024282:Genes, sry; D023961:Gonadal Dysgenesis, 46,XX / Q000097:blood / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D016133:Polymerase Chain Reaction; D011388:Prolactin / Q000097:blood; D013577:Syndrome
chemical_list: D004958:Estradiol; D011388:Prolactin; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone