title: Mutation analysis of the SRD5A2, AR and SF-1 genes in 52 Chinese boys with hypospadias.
abstract: OBJECTIVE
  To investigate the prevalence of genetic mutations in steroid 5α-reductase-2 (SRD5A2), androgen receptor (AR) and steroidogenic factor-1 (SF-1) in Chinese children with hypospadias, and to also explore the possible underlying molecular mechanisms of this disease.
  
  
  METHODS
  A total of 52 boys with hypospadias were enrolled. Mutational analyses of the SRD5A2, AR and SF-1 genes were performed by direct sequencing.
  
  
  RESULTS
  SRD5A2 gene mutations were found in 13.5% (7/52 cases), including five compound heterozygotic and two homozygotic mutations. One novel heterozygotic SF-1 gene mutation was identified in a patient with perineal hypospadias and cryptorchidism, the patient's mother also had the same mutation. No mutation was found in the AR gene. The clinical manifestations of patients with mutations in SRD5A2 or SF-1 varied.
  
  
  CONCLUSIONS
  In Chinese patients, SRD5A2 gene mutations were, relatively, frequently associated with hypospadias. The SF-1 gene may be another candidate gene for hypospadias. In contrast, AR gene mutations are not commonly associated with this condition.
authors.forename: Ruifang
authors.initials: R
authors.lastname: Wang
authors.forename: Zhiya
authors.initials: Z
authors.lastname: Dong
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.forename: Yuan
authors.initials: Y
authors.lastname: Xiao
authors.forename: Jihong
authors.initials: J
authors.lastname: Ni
authors.forename: Defen
authors.initials: D
authors.lastname: Wang
mesh_terms: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000235:genetics* / Q000378:metabolism; D000015:Abnormalities, Multiple / Q000235:genetics / Q000378:metabolism; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002681:China; D003456:Cryptorchidism / Q000235:genetics / Q000378:metabolism; D005500:Follow-Up Studies; D056726:Genetic Association Studies; D005832:Genital Diseases, Male / Q000235:genetics / Q000378:metabolism; D006785:Hospitals, University; D006801:Humans; D007021:Hypospadias / Q000235:genetics* / Q000378:metabolism; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D009035:Mothers; D009154:Mutation; D010044:Outpatient Clinics, Hospital; D010413:Penis / Q000002:abnormalities / Q000378:metabolism; D011944:Receptors, Androgen / Q000235:genetics* / Q000378:metabolism; D054339:Steroidogenic Factor 1 / Q000235:genetics* / Q000378:metabolism
chemical_list: C410798:AR protein, human; D008565:Membrane Proteins; C515057:NR5A1 protein, human; D011944:Receptors, Androgen; D054339:Steroidogenic Factor 1; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase; C548468:SRD5A2 protein, human