RESUMO
Oocyte maturation defect is a challenging situation in the management of infertility, the etiology may be related to endocrine causes, protocols used in ovarian stimulation, oocyte intrinsic defects or procedures in embryology laboratory. We report three Mexican females in treatment for primary infertility with non-mature oocytes after ovary stimulation and oocyte capture in whom a genetic diagnosis of TUBB8-oocyte maturation defect was revealed by exome sequencing. Two couples achieved pregnancies though oocyte donation after establishing the genetic etiology. Our results expand the role of TUBB8-disorders in patients of non-Asian ethnicity. Oocyte maturation defects of monogenic origin are a growing group of disorders that endocrinologists and reproductive medicine specialists should be aware in order to provide referral to genetics for establish a correct and opportune diagnosis.
Assuntos
Doenças Genéticas Inatas/terapia , Infertilidade Feminina/diagnóstico , Infertilidade Feminina/terapia , Oogênese/genética , Tubulina (Proteína)/genética , Adulto , Análise Mutacional de DNA , Feminino , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/epidemiologia , Humanos , Infertilidade Feminina/epidemiologia , Infertilidade Feminina/genética , México , Mutação , Linhagem , Gravidez , Prognóstico , Técnicas de Reprodução Assistida/estatística & dados numéricos , Resultado do TratamentoRESUMO
AIM: To analyze the presence of Y chromosome microdeletions in males of Mexican couples with idiopathic recurrent pregnancy losses (RPL). METHODS: Seventy-one males from couples with RPL and 66 fertile males as controls were studied. DNA was isolated from peripheral lymphocytes and used to run multiplex polymerase chain reactions. Regions AZFa (sY84, sY86), AZFb (sY127, sY134) and AZFc (sY254, sY255) of the Y chromosome were analyzed according to valid guidelines recommended by the European Academy of Andrology and the European Molecular Genetics Quality Network. Also, the sequence tagged sites (STSs): DYS262 (sY67), DYS220 (sY129), DYF85S1 (sY150), DYF86S1 (sY152) and DYF87S1 (sY153) were included in order to analyze STSs previously reported as deleted. A power analysis to support our simple size was performed. RESULTS: Results show an absence of Y chromosome microdeletions in males of couples with RPL and controls with an acceptable statistical power. CONCLUSION: The study did not show an association of recurrent pregnancy loss and Y chromosome microdeletions in Mexican male partners. Based on the results, the study of Y chromosome microdeletions in couples with RPL is not considered clinically relevant.
Assuntos
Aborto Habitual/etiologia , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/fisiopatologia , Adulto , Deleção Cromossômica , Cromossomos Humanos Y/genética , Características da Família , Feminino , Testes Genéticos , Humanos , Infertilidade Masculina , Masculino , México , Pessoa de Meia-Idade , Gravidez , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Adulto JovemRESUMO
Objective. To investigate the possible association among MTHFR polymorfhisms, environmental factors and cervical cancer (CC) in the Mexican population. Methods. Seventy patients with CC and 89 control women were questioned about clinical data and their 677 and 1298 genotypes of MTHFR gene were analized. Results. Multipregnancies (0-2 vs. > 3, OR 2.1), an early age of first intercourse (IVS) (17 < vs. > 18 years, OR 4.3) or both factors (OR 3.5) were significantly associated with CC. MTHFR 677, 1298 polymorphisms and their combinations were not different between cases and controls. However, a significant association between pregnancies, TVS and MTHFR polymorphisms (presence of 1298C allele or 677TT genotype) was observed. The 1298C allele plus multipregnancies and IVS < 17 years, or both factors, increased 4.3, 5.3, and 11.8 times the risk for CC, respectively, while 677TT genotype changed the risk 2.0, 1.9, and 4.2 times, respectively. Conclusion. The 1298C allele increases the risk of CC strongly in women with multipregnancies and early age of IVS, while 677TT genotype has a lower risk without becoming a protection factor.
Objetivo. Buscar la asociación entre polimorfismos de la enzima metilentetrahidrofolato reductasa (MTHFR), factores ambientales y cáncer cérvico-uterino (CaCU) en mujeres del noreste de México. Métodos. Setenta pacientes con CaCU y 89 mujeres controles se sometieron a un interrogatorio clínico y a genotipificación de los polimorfismos 677C -> T y 1298A -> C del gen MTHFR. Resultados. La multigestación (0-2 vs.> 3, OR 2.1), un temprano inicio de vida sexual (IVS) (17 < vs. > 18 años, OR 4.3) o la combinación de ambos factores (OR 3.5), estuvieron asociados significativamente al CaCU. Los polimorfismos de MTHFR 677, 1298 y sus combinaciones no fueron diferentes entre casos y controles. Sin embargo, se observó una interacción significativa entre las gestaciones, el IVS y los polimorfismos de MTHFR (presencia del alelo 1298C o del genotipo 677TT). El alelo 1298C combinado con multigestación, con un IVS < 17 años, o con ambos factores, incrementó el riesgo para CaCU en 4.3, 5.3 y 11.8 veces, respectivamente, en tanto que el genotipo 677TT modificó este riesgo a 2.0, 1.9, y 4.2 veces, respectivamente. Conclusión. El alelo 1298C incrementa considerablemente el riesgo para CaCU en mujeres multigestas y con un IVS temprano, en tanto que el genotipo 677TT disminuye este riesgo, pero sin llegar a convertirse en un factor protector.
Assuntos
Adulto , Idoso , Feminino , Humanos , Pessoa de Meia-Idade , Gravidez , Coito , /genética , Paridade , Polimorfismo Genético , Neoplasias do Colo do Útero/epidemiologia , Neoplasias do Colo do Útero/genética , Fatores Etários , MéxicoRESUMO
OBJECTIVE: To investigate the possible association among MTHFR polymorfhisms, environmental factors and cervical cancer (CC) in the Mexican population. METHODS: Seventy patients with CC and 89 control women were questioned about clinical data and their 677 and 1298 genotypes of MTHFR gene were analized. RESULTS: Multipregnancies (0-2 vs. > or = 3, OR 2.1), an early age of first intercourse (IVS) (17 < or = vs. > or = 18 years, OR 4.3) or both factors (OR 3.5) were significantly associated with CC. MTHFR 677, 1298 polymorphisms and their combinations were not different between cases and controls. However, a significant association between pregnancies, IVS and MTHFR polymorphisms (presence of 1298C allele or 677TT genotype) was observed. The 1298C allele plus multipregnancies and IVS < or = 17 years, or both factors, increased 4.3, 5.3, and 11.8 times the risk for CC, respectively, while 677TT genotype changed the risk 2.0, 1.9, and 4.2 times, respectively. CONCLUSION: The 1298C allele increases the risk of CC strongly in women with multipregnancies and early age of IVS, while 677TT genotype has a lower risk without becoming a protection factor.