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Title: | Are CYP1A1, CYP17 and CYP1B1 mutation genes involved on girls with precocious puberty? A pilot study |
Authors: | MATSUZAKI, Cezar Noboru; SOARES JUNIOR, Jose Maria; DAMIANI, Durval; AZEVEDO NETO, Raymundo Soares de; CARVALHO, Katia Candido; HOLANDA, Felisbela Soares de; STAFUZZA, Eline Maria; ALMEIDA, Jose Alcione Macedo; BARACAT, Edmund Chada |
Citation: | EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY, v.181, p.140-144, 2014 |
Abstract: | Objectives: 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. Study design: 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). Conclusion: Our data suggest the CYP1B1 Eco571 gene variant is associated with puberty timing. |
Appears in Collections: | Artigos e Materiais de Revistas Científicas - FM/MOG Artigos e Materiais de Revistas Científicas - FM/MPT Artigos e Materiais de Revistas Científicas - HC/ICHC Artigos e Materiais de Revistas Científicas - HC/ICr Artigos e Materiais de Revistas Científicas - LIM/01 Artigos e Materiais de Revistas Científicas - LIM/36 Artigos e Materiais de Revistas Científicas - LIM/58 |
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