title: Association of aberrant expression of sex-determining gene fibroblast growth factor 9 with Sertoli cell-only syndrome.
abstract: OBJECTIVE
  To investigate the expressions of fibroblast growth factor 9 (FGF9) in normal testes and in testes with Sertoli cell-only syndrome (SCOS), explore the biological function of testicular FGF9, and identify the sequence variants of FGF9 gene in patients with SCOS.
  
  
  METHODS
  Retrospective case study.
  
  
  METHODS
  University reproductive clinic.
  
  
  METHODS
  Forty-one patients with SCOS, seven with normal spermatogenesis, and 100 controls.
  
  
  METHODS
  Protein expressions of testicular FGF9 and sequence variants of FGF9 gene in normal controls and patients with SCOS were studied. The biological function and regulation of testicular FGF9 were assessed in vitro.
  
  
  METHODS
  Expression profiles of testicular FGF9, effects of FGF9 on germ cell proliferation, and sequence variants of the FGF9 gene.
  
  
  RESULTS
  FGF9 was predominately expressed in the cytoplasm of Leydig cells of normal testis; its expression was significantly decreased in patients with SCOS. Conditioned medium of FGF9-treated Leydig cells stimulated germ cell proliferation. A promoter polymorphism (c.-712C→T) of the FGF9 gene attenuated the promoter activity, which contributes to one of the causes of its low expression.
  
  
  CONCLUSIONS
  In addition to the role of sex determination, FGF9 is expressed in postnatal Leydig cells and is involved in cell-to-cell interaction of testicular function. Aberrant expression of testicular FGF9 is associated with SCOS.
authors.affiliation: Division of Andrology, Department of Urology, College of Medicine and Hospital, National Cheng Kung University, Tainan, Taiwan.
authors.forename: Chia-Ling
authors.initials: CL
authors.lastname: Chung
authors.forename: Chun-Wun
authors.initials: CW
authors.lastname: Lu
authors.forename: Yu-Sheng
authors.initials: YS
authors.lastname: Cheng
authors.forename: Ching-Yi
authors.initials: CY
authors.lastname: Lin
authors.forename: H Sunny
authors.initials: HS
authors.lastname: Sun
authors.forename: Yung-Ming
authors.initials: YM
authors.lastname: Lin
mesh_terms: D051525:Fibroblast Growth Factor 9 / Q000235:genetics*; D056726:Genetic Association Studies; D005819:Genetic Markers / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D015994:Incidence; D008297:Male; D009154:Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012307:Risk Factors; D054331:Sertoli Cell-Only Syndrome / Q000453:epidemiology* / Q000235:genetics*; D019849:Sex Determination Processes / Q000235:genetics*; D013624:Taiwan / Q000453:epidemiology
chemical_list: C496459:FGF9 protein, human; D051525:Fibroblast Growth Factor 9; D005819:Genetic Markers
keywords: FGF9; Leydig cell; Sertoli cell–only syndrome; male infertility; polymorphism