title: Are CYP1A1, CYP17 and CYP1B1 mutation genes involved on girls with precocious puberty? A pilot study.
abstract: OBJECTIVE
  To investigate three genes associated with puberty timing in girls with central precocious puberty by evaluating the association between polymorphism in the gene sequence codifying the enzymes participating in steroidogenesis, CYP1A1, CYP17, and CYP1B1 and central precocious puberty.
  
  
  METHODS
  A total of 177 patients was included and divided into two groups: Case group with 73 girls diagnosed with central precocious puberty; Control group with 104 girls with puberty onset after 8 years of age who were followed at the Sector of Gynecology of Childhood and Adolescence, Division of Gynecology Clinic, HC-FMUSP. Polymorphism presence was assessed in the genes involved in estrogen metabolism (CYP1A1, CYP17, and CYP1B1) by the restriction fragment length polymorphism (RFLP) technique using DNA from peripheral blood.
  
  
  RESULTS
  No significant difference in the distribution of the CYP1A1 Mspl (p=0.86) and CYP17 (p=0.12) genotypes was detected between the two study groups. As for CYP1B1 Eco571, the mutated C/C genotype was found to be more frequent in the control group than in the case group (p=0.03).
  
  
  CONCLUSIONS
  Our data suggest the CYP1B1 Eco571 gene variant is associated with puberty timing.
authors.affiliation: Disciplina de Ginecologia do Departamento de Obstetrícia e Ginecologia da Faculdade de Medicina da Universidade de São Paulo, 05403000, São Paulo, SP, Brazil.
authors.forename: Cezar Noboru
authors.initials: CN
authors.lastname: Matsuzaki
authors.affiliation: Disciplina de Ginecologia do Departamento de Obstetrícia e Ginecologia da Faculdade de Medicina da Universidade de São Paulo, 05403000, São Paulo, SP, Brazil. Electronic address: jsoares415@hotmail.com.
authors.forename: José Maria Soares
authors.initials: JM
authors.lastname: Júnior
authors.affiliation: Departamento de Pediatria da Faculdade de Medicina da Universidade de São Paulo, 05403000, São Paulo, SP, Brazil.
authors.forename: Durval
authors.initials: D
authors.lastname: Damiani
authors.affiliation: Departamento de Patologia da Faculdade de Medicina da Universidade de São Paulo, 05403000, São Paulo, SP, Brazil.
authors.forename: Raymundo Soares
authors.initials: RS
authors.lastname: de Azevedo Neto
authors.affiliation: Disciplina de Ginecologia do Departamento de Obstetrícia e Ginecologia da Faculdade de Medicina da Universidade de São Paulo, 05403000, São Paulo, SP, Brazil.
authors.forename: Kátia Cândido
authors.initials: KC
authors.lastname: Carvalho
authors.affiliation: Disciplina de Ginecologia do Departamento de Obstetrícia e Ginecologia da Faculdade de Medicina da Universidade de São Paulo, 05403000, São Paulo, SP, Brazil.
authors.forename: Felisbela Soares
authors.initials: FS
authors.lastname: de Holanda
authors.affiliation: Disciplina de Ginecologia do Departamento de Obstetrícia e Ginecologia da Faculdade de Medicina da Universidade de São Paulo, 05403000, São Paulo, SP, Brazil.
authors.forename: Eline Maria
authors.initials: EM
authors.lastname: Stafuzza
authors.affiliation: Disciplina de Ginecologia do Departamento de Obstetrícia e Ginecologia da Faculdade de Medicina da Universidade de São Paulo, 05403000, São Paulo, SP, Brazil.
authors.forename: José Alcione Macedo
authors.initials: JA
authors.lastname: Almeida
authors.affiliation: Disciplina de Ginecologia do Departamento de Obstetrícia e Ginecologia da Faculdade de Medicina da Universidade de São Paulo, 05403000, São Paulo, SP, Brazil.
authors.forename: Edmund Chada
authors.initials: EC
authors.lastname: Baracat
mesh_terms: D000293:Adolescent; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D019363:Cytochrome P-450 CYP1A1 / Q000235:genetics*; D065633:Cytochrome P-450 CYP1B1 / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008572:Menarche / Q000235:genetics; D009154:Mutation; D010865:Pilot Projects; D012150:Polymorphism, Restriction Fragment Length; D011629:Puberty, Precocious / Q000235:genetics*; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics*
chemical_list: D019363:Cytochrome P-450 CYP1A1; D065633:Cytochrome P-450 CYP1B1; D013254:Steroid 17-alpha-Hydroxylase
keywords: Estrogens; Genetic polymorphism; Precocious puberty