RESUMO
BACKGROUND: Precocious puberty (PP) is defined as premature pubertal development. Its consequences surpass the physical evidence of sexual maturity with the premature epiphyseal closure of the long bones and the reduction of adult stature by varied degrees. Central PP is characteristically dependent on GnRH and most of its causes are not completely known. Altered estrogen action is also believed to be involved in the genesis of PP. In fact, estrogen receptor alpha (Rea) gene polymorphisms may be associated with early age at menarche. The objective of this study was to investigate the relationship between Reα gene polymorphisms (PvuII and XbaI) and the occurrence of central PP. METHODS: A total of 73 girls with central PP and 101 girls with normal pubertal maturation were evaluated. Both groups were genotyped for the PvuII (T/C) and XbaI (A/G) polymorphisms in the Reα gene. RESULTS: The frequency distribution of the XbaI (p = 0.28) and of the PvuII (p = 0.12) genotypes, as well as the XbaI and PvuII allelic variants (p = 0.23 and p = 0.86, respectively), did not differ between the groups. CONCLUSION: The PvuII and XbaI Rea gene polymorphisms do not appear to be related to development of central PP.
Assuntos
Receptor alfa de Estrogênio/genética , Polimorfismo de Fragmento de Restrição , Puberdade Precoce/genética , Estudos de Casos e Controles , Feminino , Frequência do Gene , Predisposição Genética para Doença , Humanos , Projetos Piloto , ProibitinasRESUMO
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.
Assuntos
Citocromo P-450 CYP1A1/genética , Citocromo P-450 CYP1B1/genética , Puberdade Precoce/genética , Esteroide 17-alfa-Hidroxilase/genética , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Genótipo , Humanos , Menarca/genética , Mutação , Projetos Piloto , Polimorfismo de Fragmento de RestriçãoRESUMO
OBJECTIVE: To evaluate the effect of 6-sulphatoxymelatonin on the sleep quality of girls with precocious puberty. STUDY DESIGN: Ninety-nine girls were divided into three groups: GI, precocious puberty; GII, normal prepubescent; GIII, normal puberty. Questionnaires containing demographic and clinical data were applied. Blood was collected for hormonal evaluation for 6-sulphatoxymelatonin. The modified Rush Sleep Diary was used. RESULTS: The levels of 6-sulphatoxymelatonin were highest in the group without pubertal development (75.23 ± 10.84 ng/ml), second highest in the group with normal puberty (45.66 ± 3.87 ng/ml, p < 0.001) and lowest in the group with true precocious puberty (37.04 ± 5.47 ng/ml). The amount of day sleep was greater in the group without pubertal development compared to other groups. CONCLUSION: Despite the sleep data, melatonin may be involved in the precocious puberty process.