Polymorphism of the estrogen receptor ß gene is related to infertility and infertility-associated endometriosis.

OBJECTIVE: To determine the frequency of the estrogen receptor b gene (ERß) +1730 G/A polymorphism in infertile women with and without endometriosis and controls. SUBJECTS AND METHODS: Case-control study that included 136 women with endometriosis, 69 women without endometriosis and 209 fertile women as controls. The ERß gene + 1730 G/A polymorphism was identified by RFLP-PCR (Restriction Fragment Length Polymorphism - Polymerase Chain Reaction). RESULTS: Genotypes GG, GA and AA of the ERß gene presented frequencies of 60.3%, 38.2% and 1.5%, respectively, in the women with endometriosis (p < 0.0022). Of the infertile women without endometriosis, 63.8% presented the normal homozygous genotype GG, 30.4% the GA heterozygous genotype, and 5.8% the homozygous mutated genotype AA (p < 0.0275). In the control group, 77.5% presented the normal homozygous genotype GG, 21.1% the heterozygous genotype GA, and 1.4% the homozygous mutated genotype AA. CONCLUSION: The data suggest that the estrogen receptor ß gene (ERß) +1730 G/A polymorphism can be associated with risk of infertility and endometriosis-associated infertility.

Polymorphism of the estrogen receptor β gene is related to infertility and infertility-associated endometriosis / O polimorfismo do gene do receptor β de estrógeno está relacionado com infertilidade e endometriose associada à infertilidade

OBJECTIVE: To determine the frequency of the estrogen receptor b gene (ERβ) +1730 G/A polymorphism in infertile women with and without endometriosis and controls. SUBJECTS AND METHODS: Case-control study that included 136 women with endometriosis, 69 women without endometriosis and 209 fertile women as controls. The ERβ gene + 1730 G/A polymorphism was identified by RFLP-PCR (Restriction Fragment Length Polymorphism - Polymerase Chain Reaction). RESULTS: Genotypes GG, GA and AA of the ERβ gene presented frequencies of 60.3 percent, 38.2 percent and 1.5 percent, respectively, in the women with endometriosis (p < 0.0022). Of the infertile women without endometriosis, 63.8 percent presented the normal homozygous genotype GG, 30.4 percent the GA heterozygous genotype, and 5.8 percent the homozygous mutated genotype AA (p < 0.0275). In the control group, 77.5 percent presented the normal homozygous genotype GG, 21.1 percent the heterozygous genotype GA, and 1.4 percent the homozygous mutated genotype AA. CONCLUSION: The data suggest that the estrogen receptor β gene (ERβ) +1730 G/A polymorphism can be associated with risk of infertility and endometriosis-associated infertility.

OBJETIVO: Determinar a frequência do polimorfismo +1730 G/A do gene do receptor beta de estrógeno (ERβ) em mulheres inférteis com e sem endometriose e controles. SUJEITOS E MÉTODOS: Estudo caso-controle que incluiu 136 mulheres com endometriose, 69 mulheres sem endometriose e 209 mulheres férteis como controles. O polimorfismo ERβ + 1730 G/A foi identificado por RFLP-PCR (Restriction Fragment Length Polymorphism - Polymerase Chain Reaction). RESULTADOS: Os genótipos GG, GA e AA do polimorfismo ERβ + 1730 G/A apresentaram frequência de 60,3 por cento, 38,2 por cento e 1,5 por cento, respectivamente, nas mulheres com endometriose (p = 0,0022). Das mulheres inférteis sem endometriose, 63,8 por cento apresentaram o genótipo homozigoto normal GG, 30,4 por cento o genótipo heterozigoto GA e 5,8 por cento o genótipo homozigoto mutado AA (p = 0,0275). No grupo controle, os genótipos GG, GA e AA apresentaram frequência de 77,5 por cento, 21,1 por cento e 1,4 por cento. CONCLUSÃO: Os dados sugerem que o polimorfismo ERβ +1730G/ pode estar associado ao risco de infertilidade e infertilidade associada à endometriose.

Luteinizing hormone beta-subunit gene (LHbeta) polymorphism in infertility and endometriosis-associated infertility.

OBJECTIVE: To establish the frequency of LHbeta G1502A polymorphism in infertile women with endometriosis, infertile women without endometriosis and a control group. STUDY DESIGN: Case-control study including 110 infertile women with endometriosis, 84 infertile women without endometriosis and a control group consisting 209 healthy fertile women recruited from the ABC School of Medicine. The LHbeta G1502A polymorphism was studied by RPLP-PCR (restriction fragment length polymorphism-polymerase chain reaction). RESULTS: Genotypes GG, GA and AA of the LHbeta G1502A polymorphism presented frequencies of 54.6%, 31.8% and 13.6%, respectively, in the women with endometriosis (p=0.0398); of 52.4%, 38.1% and 9.5% (p=0.0123), respectively, in the infertile women without endometriosis; and of 68.9%, 21.5% and 9.6%, respectively, in the control group. In patients with minimal/mild endometriosis and moderate/severe endometriosis, the GG, GA and AA genotype frequencies were, respectively, 47.3%, 36.4% and 16.3% (p=0.0118); and 61.8%, 27.3% and 10.9% (p=0.5975). Considering the alleles, allele G was present in 70.5% of the patients with endometriosis, 71.4%% of the infertile women without endometriosis and in 79.7% of the controls, whereas allele A was present in 29.5%, 28.6% and 20.3%, respectively, in the infertile women with endometriosis (p=0.0121), infertile women without endometriosis (p=0.0409) and controls. Alleles G and A presented frequencies of 65.5% and 34.5% and 75.5% and 24.5%, respectively, in minimal/mild endometriosis (p=0.0026) and moderate/severe endometriosis (p=0.4062). CONCLUSION: The data suggest that LHbeta G1502A polymorphism may be involved in the predisposition to infertility and minimal/mild endometriosis-associated infertility, although endometriosis might be only a coincidental finding along with infertility.

+1730 G/A polymorphism of the estrogen receptor beta gene (ERbeta) may be an important genetic factor predisposing to endometriosis.

OBJECTIVE: To determine the frequency of the estrogen receptor gene (ERbeta) +1730 G/A polymorphism in Brazilian women with endometriosis. DESIGN: Case-control study. SETTING: Endometriosis Outpatient Clinic and Family Planning Outpatient Clinic of ABC Faculty of Medicine. POPULATION: A total of 108 patients with endometriosis and a control group consisting of 210 fertile women. METHODS: The ERbeta gene +1730 G/A polymorphism was identified by restriction fragment length polymorphism-polymerase chain reaction. MAIN OUTCOME MEASURE(S): Genotype distribution and allele frequency of the +1730 G/A polymorphism in the ERbeta gene. RESULTS: Genotypes GG, GA and AA of the ERbeta gene presented frequencies of 50.9%, 47.2% and 1.9%, respectively, in the women with endometriosis. Among the patients with stage I/II endometriosis, 47% presented the normal homozygous genotype GG; 51% had a GA heterozygous genotype and 2% had a homozygous mutated genotype AA. Among the patients with stage III/IV endometriosis, genotypes GG, GA and AA were present in 54.3%, 44% and 1.7%, respectively. In the control group, 74.3% presented the normal homozygous genotype GG, 24.3% the heterozygous genotype GA and 1.4% the homozygous mutated genotype AA. CONCLUSION: The data suggest that the ERbeta gene +1730 G/A polymorphism can be associated with the risk of endometriosis development, regardless of the stage of the disease.

A terapia hormonal como causa desangramento uterino após a menopausa:avaliação histeroscópica de 469 casos / Hormonal replacement therapy as cause of abnormal uterine bleedingin postmenopausal women: hysteroscopy evaluation of 469 cases

Objetivo: avaliar por meio de histeroscopia e biópsia dirigida a influência do uso da terapia de reposição hormonal (TRH) sobre o endométrio de mulheres menopausadas com sangramento uterino. Material e métodos: Foram estudadas 469 pacientes com sangramento uterino na pós-menopausa e submetidas à histeroscopia no Setor de Histeroscopia da Faculdade de Medicina do ABC (FMABC). As pacientes foram divididas em grupos: Grupo I, mulheres que faziam uso de TRH após a menopausa há mais de seis meses (n=174) e Grupo II, mulheres que nunca fizeram TRH(n=295). Para análise estatística utilizou-se o teste χ2. Resultados: os achados histeroscópicos mais frequententemente encontrados foram pólipo endometrial e endométrio atrófico tanto no Grupo I como no Grupo II. Não houve diferença significativa nos achados malignos, benignos e negativos nos dois grupos estudados. Conclusões: A TRH não influenciou os achados histeroscópicos e de biópsia de endométrio em mulheres após amenopausa.

Purpose: to evaluate by hysteroscopy the role of hormonal replacement therapy (HRT) on the endometrial findings in women with postmenopausal bleeding. Material and methods: a sample of 469 patients with postmenopausal bleeding who underwent hysteroscopy procedure at Hysteroscopy Section of Faculdade de Medicina do ABC (FMABC). The patients were divided in groups: Group I, the ones with hormonal replacement therapy (HRT) (n=174) and Group II, the ones without it (n=295). For statistical analysis, the test of χ2 was used. Results: hysteroscopy revealed in both groups the same diagnosis: endometrial polyps and endometrial atrophy. No differences were observed in the comparison of results found on the Groups Iand II for incidence of malignant, benign pathology and even for the endometrium without abnormality. Conclusions: The HRT did not influence the endometrium hysteroscopic and biopsies findings in postmenopausal women.