RESUMEN
Introducción: La infertilidad es una enfermedad presente en el 17.5% de la población adulta. La COVID-19 provocó sobrecargas en atención de salud, generando un impacto incierto en unidades de salud reproductiva que realizan terapias de reproducción asistida. Objetivos: Comparar características clínicas y tiempos de atención de pacientes sometidas a fertilización in vitro de la Unidad de Medicina Reproductiva del Hospital Gustavo Fricke entre los periodos 2017-2019 y 2020-2022. Método: Estudio observacional descriptivo, utilizando base de datos anonimizada de la Unidad de Medicina Reproductiva del Hospital Gustavo Fricke con 82 pacientes sometidas a fertilización in vitro. Resultados: La media de edad fue de 34.2 ± 4.2 años. El tiempo de infertilidad fue de 5.1 ± 4.3 años. Los factores de infertilidad más frecuentes son el tuboperitoneal (59,8%) y masculino (46,3%). Durante los primeros 20 meses en prepandemia hubo mayor tendencia a derivación precoz al Centro de Reproducción Humana de la Universidad de Valparaíso (odds ratio: 3.84). Conclusiones: En pandemia se evidenció un aumento en el tiempo de infertilidad, mediana de gestaciones, abortos previos y frecuencia de factor masculino. No hubo cambios significativos en tiempos de derivación a fertilización in vitro, no obstante, durante la pandemia disminuyeron las derivaciones precoces.
Introduction: Infertility is a disease present in the 17.5% of the adult population. COVID-19 caused overload in health centers, producing an unclear impact in the reproductive health units that perform assisted reproduction therapies. Objectives: To compare clinical characteristics and the attention times of patients subjected to in vitro fertilization in the Reproductive Medicine Unit of the Gustavo Fricke Hospital between the 2017-2019 and 2020-2022 periods. Method: Descriptive observational study in which an anonymized database of 82 patients subjected to in vitro fertilization in the Reproductive Medicine Unit of the Gustavo Fricke Hospital was used. Results: The average age was 34.2 ± 4.2 years old. The infertility time was 5.1 ± 4.3 years. The most frequent infertility factors were tuboperitoneal (59.8%) and male factors (46.3%). During the first pre-pandemic 20 months, there was a higher tendency towards early referral to the Center for Human Reproduction of the Valparaiso University (odds ratio: 3.84). Conclusions: In the course of the pandemic, there was an increase of the infertility time, the pregnancies median, prior abortions, and male factor frequency. On the other hand, there were not considerable changes when it comes to referral times to in vitro fertilization, however, early referrals decreased during the pandemic.
Asunto(s)
Humanos , Femenino , Adulto , Resultado del Embarazo/epidemiología , COVID-19/psicología , Infertilidad Femenina/psicología , Embarazo , Fertilización In Vitro/métodos , Medicina Reproductiva/tendencias , Técnicas Reproductivas Asistidas , Infertilidad Femenina/complicacionesRESUMEN
A infertilidade afeta milhões de mulheres em todo o mundo, sendo quase metade dos casos decorrentes de fatores tuboperitoneal, destacando- se a endometriose como doença de grande prevalência. Este artigo apresenta um caso clínico bem-sucedido de tratamento homeopático para infertilidade, resultando em rápida desobstrução da tuba uterina e gravidez em um ciclo ovulatório. O tratamento incluiu simillium (Nux vomica) e constitucional (Calcarea phosphorica), além de medicamento episódico (Eupion, Borax veneta e Endometrium).
Infertility affects millions of women worldwide, with nearly half of the cases attributed to tuboperitoneal factors, with endometriosis being a prevalent condition. This article presents a successful clinical case of homeopathic treatment for infertility, resulting in rapid unblocking of the fallopian tube and pregnancy in one ovulatory cycle. The treatment included simillium (Nux vomica) and constitutional (Calcarea phosphorica) remedies, along with episodic medication (Eupion, Borax veneta and Endometrium).
Asunto(s)
Humanos , Femenino , Adulto , Terapéutica Homeopática , Infertilidad Femenina/tratamiento farmacológico , Calcarea Phosphorica/uso terapéutico , Eupionum/uso terapéutico , Materia Medica , Strychnos nux-vomica , EndometrioRESUMEN
Este trabalho tem o objetivo de analisar as concepções de maternidade para mulheres inférteis de diferentes níveis socioeconômicos que estão em tratamento de reprodução assistida. Trata-se de um estudo qualitativo, descritivo, que utilizou como instrumento uma entrevista semiestruturada e contemplou temas como o significado de família, desejo/expectativas sobre filho e gestação e expectativas sobre a maternidade. Participaram da pesquisa 48 mulheres inférteis acima de 35 anos que usam tecnologias de reprodução assistida de alta complexidade em instituições privada e pública. Os dados foram tratados pela análise de conteúdo em que emergiram os temas: representações sociais da família; representações sociais da maternidade; expectativas com a gestação e os modelos maternos; e o filho imaginado. As participantes representaram a família de forma positiva, como um sistema de suporte, de fundação e origem de amor, configurando-a como um laço social. Por outro lado, as concepções de família com base na consanguinidade também estiveram presentes, representando a família pela perpetuação da espécie e pela importância do laço biológico. A maternidade foi marcada por significativa idealização, sendo vista como um papel gratificante e de realização da feminilidade. O peso da cobrança social para procriar também foi sentido como um dever a cumprir e que, na impossibilidade de se realizar, gera sentimentos de inferioridade, menos-valia, impotência e inadequação perante a sociedade, o que reforça o estigma da infertilidade. Tais resultados apontam a importância de reflexões sobre o papel da mulher na nossa cultura, visto que a maternidade é ainda utilizada como medida para o sucesso ou fracasso feminino. Faz-se necessário também refletir sobre a possibilidade da maior inserção do trabalho psicológico na reprodução assistida, visto a carga emocional e social envolvidas nesse processo.(AU)
This study aimed to analyze the conceptions of motherhood for infertile women from different socioeconomic levels who are undergoing assisted reproduction treatment. This is a qualitative and descriptive study that used a semi-structured interview as an instrument and included topics such as the meaning of family and desires/expectations about the child, pregnancy, and motherhood. A total of 48 infertile women over 35 years of ages using high-complexity assisted reproductive technologies in private and public institutions participated in this research. The data were treated by content analysis in which the following themes emerged: family social representations; social representations of motherhood; expectations with pregnancy and maternal models; and the imagined son. Participants represented the family in a positive way as a support system and the foundation and origin of love, embracing the family as a social bond. On the other hand, the family concepts based on inbreeding were also present, representing the family by perpetuation of the species and the importance of biological bonds. Motherhood was marked by significant idealization, being seen as a gratifying role and the fulfillment of femininity. The weight of the social demand to procreate was also felt as a duty to be fulfilled that, in the impossibility of carrying it out, generates feelings of inferiority, worthlessness, impotence, and inadequacy toward society, which reinforce the stigma of infertility. Results point to the necessary reflections on the role of women and our culture since Motherhood is still used as a measure of female success or failure. They also point to a reflection on the possibility of greater inclusion of psychological work in assisted reproduction given the emotional and social burden involved in this process.(AU)
Este estudio tuvo como objetivo analizar las concepciones de maternidad de mujeres infértiles, de diferentes niveles socioeconómicos, que se encuentran en tratamiento de reproducción asistida. Se trata de un estudio cualitativo, descriptivo, que utilizó como instrumento una entrevista semiestructurada e incluyó temas como el sentido de la familia, deseos/expectativas sobre el hijo y el embarazo y expectativas sobre la maternidad. Participaron en la investigación un total de 48 mujeres infértiles, mayores de 35 años, usuarias de tecnologías de reproducción asistida de alta complejidad en instituciones públicas y privadas. Los datos se sometieron a análisis de contenido del cual surgieron los temas: representaciones sociales familiares; representaciones sociales de la maternidad; expectativas con el embarazo y modelos maternos; hijo imaginado. Las participantes representaron a la familia de manera positiva, como sistema de apoyo, fundamento y origen del amor, configurándola como vínculo social. Por otro lado, también estuvieron presentes las concepciones familiares basadas en la consanguinidad, representando a la familia para la perpetuación de la especie y la importancia del vínculo biológico. La maternidad estuvo marcada por una importante idealización, vista como un rol gratificante y de realización de la feminidad. También se sintió el peso de la demanda social de procrear como un deber que cumplir y que, ante la imposibilidad de realizarlo, genera sentimientos de inferioridad, desvalorización, impotencia e inadecuación en la sociedad, lo que refuerza el estigma de la infertilidad. Por tanto, son necesarias reflexiones sobre el papel de la mujer en nuestra cultura, ya que la maternidad se sigue utilizando como medida del éxito o fracaso femenino. También se reflexiona sobre la posibilidad de una mayor inclusión del trabajo psicológico en la reproducción asistida dada la carga emocional y social que implica este proceso.(AU)
Asunto(s)
Humanos , Femenino , Embarazo , Reproducción , Familia , Responsabilidad Parental , Representación Social , Infertilidad Femenina , Ansiedad , Detección de la Ovulación , Inducción de la Ovulación , Óvulo , Transporte del Óvulo , Relaciones Padres-Hijo , Grupo de Atención al Paciente , Pacientes , Mantenimiento del Embarazo , Embarazo Múltiple , Prejuicio , Psicología , Calidad de Vida , Autoimagen , Sexo , Abstinencia Sexual , Vergüenza , Logro , Identificación Social , Transporte Espermático , Espermatozoides , Tabú , Tiempo , Tabaquismo , Sistema Urogenital , Útero , Características de la Población , Estrategias de Salud Nacionales , Trabajo de Parto , Embarazo , Resultado del Embarazo , Preparaciones Farmacéuticas , Adopción , Divorcio , Matrimonio , Fertilización In Vitro , Enfermedades de Transmisión Sexual , Crianza del Niño , Composición Familiar , Factores de Riesgo , Enfermedad Inflamatoria Pélvica , Técnicas Reproductivas , Edad Gestacional , Coito , Embarazo de Alto Riesgo , Donación de Oocito , Consanguinidad , Anticoncepción , Sexualidad , Terapia de Parejas , Afecto , Amenaza de Aborto , Infección Pélvica , Herencia , Patrón de Herencia , Predicción de la Ovulación , Depresión , Derechos Sexuales y Reproductivos , Diagnóstico , Sueños , Alcoholismo , Transferencia de Embrión , Endometriosis , Estado Conyugal , Mercado de Trabajo , Pruebas de Obstrucción de las Trompas Uterinas , Conflicto Familiar , Relaciones Familiares , Fantasía , Miedo , Enfermedades Urogenitales Femeninas y Complicaciones del Embarazo , Masculinidad , Conducta Sedentaria , Consumo Excesivo de Bebidas Alcohólicas , Esperanza , Normas Sociales , Descuento por Demora , Encuestas de Prevalencia Anticonceptiva , Trauma Psicológico , Concepción de Donantes , Estilo de Vida Saludable , Efectividad Anticonceptiva , Anticoncepción Reversible de Larga Duración , Construcción Social del Género , Expresión de Género , Necesidades Específicas del Género , Frustación , Desconcierto , Tristeza , Regulación Emocional , Distrés Psicológico , Empoderamiento , Varicocele , Pertenencia , Apoyo Familiar , Agotamiento Emocional , Culpa , Felicidad , Imaginación , Infertilidad Masculina , Inseminación Artificial Homóloga , Laboratorios , Estilo de Vida , Soledad , Intercambio Materno-Fetal , Medicina , ObesidadRESUMEN
Las malformaciones müllerianas (MM) son un grupo de anomalías estructurales originadas por fallas de desarrollo de los conductos paramesonéfricos o de Müller durante las primeras 16 semanas de gestación. Un oportuno diagnóstico y una correcta clasificación permiten ofrecer el mejor manejo y diferenciar aquellas pacientes que requieren tratamiento quirúrgico. Se realizó una revisión de la literatura sobre MM en las bases de datos Epistemonikos, SciELO, Cochrane y PubMed. Se rescataron todas las pacientes ingresadas con diagnóstico de MM. En el año 2021, la American Society of Reproductive Medicine publicó un consenso en el que se estandarizó la nomenclatura, se amplió el espectro y se simplificó la clasificación. La clínica es variada, e incluye pacientes asintomáticas cuyo diagnóstico es un hallazgo por imágenes. Los mejores estudios imagenológicos son la resonancia magnética (RM) y la ultrasonografía 3D, dejando la histeroscopia y la laparoscopia (método de referencia) como procedimiento diagnóstico-terapéutico. Se presentan casos clínicos desarrollados durante el primer trimestre de 2022. Recomendamos la utilización sistemática de la RM para el diagnóstico de anomalías complejas u obstructivas del aparato genital. El tratamiento de estas patologías debe ser realizado por ginecólogos endoscopistas expertos, e incluye tratamiento médico y quirúrgico, el cual debe ser enfocado en cada paciente dependiendo del tipo de MM y de los deseos de fertilidad.
Müllerian malformations (MM) are a group of structural anomalies caused by developmental failure of the paramesonephric or Müllerian ducts during the first 16 weeks of gestation. Timely diagnosis and classification allow us to offer the best management and to differentiate those patients who require surgical treatment. Literature review on MM in Epistemonikos, SciELO, Cochrane and PubMed databases. All patients admitted with a diagnosis of MM were rescued. In 2021, the American Society of Reproductive Medicine publishes a consensus where it standardizes the nomenclature, broadens the spectrum, and simplifies the classification. The clinical picture is varied and includes asymptomatic patients whose diagnosis is an imaging finding. The best imaging studies are magnetic resonance imaging (MRI) and 3D ultrasonography, leaving hysteroscopy and laparoscopy (gold standard) as diagnostic therapeutic. Clinical cases developed during the first trimester 2022 are presented. We recommend the routine use of MRI for the diagnosis of complex and/or obstructive anomalies of the genital tract. The treatment of these pathologies should be performed by expert endoscopic gynecologists and include medical and surgical treatment, which should be focused on each patient, depending on the type of MM and fertility desires.
Asunto(s)
Humanos , Femenino , Adulto , Persona de Mediana Edad , Adulto Joven , Conductos Paramesonéfricos/anomalías , Conductos Paramesonéfricos/cirugía , Conductos Paramesonéfricos/diagnóstico por imagen , Enfermedades Uterinas/cirugía , Enfermedades Uterinas/congénito , Enfermedades Uterinas/diagnóstico por imagen , Anomalías Congénitas/cirugía , Anomalías Congénitas/clasificación , Anomalías Congénitas/diagnóstico por imagen , Útero/anomalías , Vagina/anomalías , Enfermedades Vaginales/cirugía , Enfermedades Vaginales/congénito , Enfermedades Vaginales/diagnóstico por imagen , Infertilidad FemeninaRESUMEN
O presente estudo tem como objetivo relatar o caso de uma paciente com malformação arteriovenosa uterina, efetivamente tratada com embolização seletiva e com fertilidade preservada. A malformação arteriovenosa uterina é uma alteração vascular rara até então pouco descrita na literatura. A paciente do sexo feminino apresentou quadro de sangramento uterino anormal, com início 30 dias após um abortamento, sem realização de curetagem, de uma gestação resultante de fertilização in vitro. Foram, então, realizados exames de imagem, que levaram ao diagnóstico de malformação arteriovenosa uterina. O tratamento de escolha foi a embolização arterial seletiva, com resolução do caso. Após sete meses, nova fertilização in vitro foi realizada, encontrando-se na 36a semana de gestação. São necessários mais estudos sobre essa malformação a fim de que sejam estabelecidos os métodos mais eficazes para o manejo de casos futuros, especialmente quando há desejo de gestar.
The present study aims to report the case of a patient with uterine arteriovenous malformation, effectively treated with selective embolization and with preserved fertility. Uterine arteriovenous malformation is a rare vascular disorder that has so far been rarely described in the literature. Female patient presented with abnormal uterine bleeding, starting 30 days after an abortion without subsequent curettage, of a pregnancy resulting from in vitro fertilization. Imaging tests were then performed that led to the diagnosis of uterine arteriovenous malformation. The treatment of choice was selective arterial embolization, with successful results. After seven months, a new in vitro fertilization was performed, being in the 36th week of pregnancy. Further studies on this pathology are needed in order to establish the most effective methods for the management of future cases, especially when there is a desire to become pregnant.
Asunto(s)
Humanos , Femenino , Embarazo , Adulto , Malformaciones Arteriovenosas/tratamiento farmacológico , Malformaciones Arteriovenosas/diagnóstico por imagen , Hemorragia Uterina/tratamiento farmacológico , Útero/diagnóstico por imagen , Informes de Casos , Diagnóstico por Imagen , Salud de la Mujer , Endometritis/tratamiento farmacológico , Embolización de la Arteria Uterina/instrumentación , Adenomiosis/tratamiento farmacológico , Ginecología , Infertilidad Femenina/complicaciones , ObstetriciaRESUMEN
Objetivo: Avaliar o índice de sucesso do tratamento da gravidez ectópica com o protocolo de dose única do metotrexato e verificar sua correlação com variáveis clínicas e dados dos exames complementares. Métodos: É um estudo epidemiológico observacional, analítico, retrospectivo, de delineamento transversal. Foi realizado de janeiro de 2014 a agosto de 2020 em um hospital público, de ensino, em nível terciário, do Sul do Brasil. Em 73 casos com diagnóstico de gestação ectópica íntegra, foi utilizado o protocolo de dose única de metotrexato intramuscular, com a dose de 50 mg/m2 de superfície corporal. As variáveis do estudo foram relacionadas ao sucesso do tratamento e abordaram as características clínicas na admissão, dos exames complementares e do tratamento realizado. As variáveis foram comparadas por análise de regressão de Poisson. O nível de significância estabelecido foi de p < 0,05. Resultados: O índice de sucesso foi de 83,6%, e em nove casos foi necessária uma segunda dose da medicação. Nível de ß-hCG inicial superior a 5.000 mUI/mL foi relacionado a menor chance de sucesso (odds ratio ajustado de 0,20 [0,05-0,95]). Tamanho da imagem anexial, presença de líquido livre na cavidade abdominal e demais variáveis estudadas não afetaram a chance de sucesso do tratamento. Conclusão: O protocolo de dose única de metotrexato mostrou-se uma opção válida para o tratamento da gestação ectópica íntegra, notadamente quando o nível de ß-hCG inicial é inferior 5.000 mUI/mL.
Objective: The purpose of the present study is to evaluate the success rate of treatment of ectopic pregnancy with the single-dose methotrexate protocol and to verify its correlation with clinical variables and complementary exam data. Methods: This is a retrospective epidemiological observational analytical cross-sectional study. It was carried out from January 2014 to August 2020 in a tertiary level teaching hospital in southern Brazil. In 73 cases with a diagnosis of intact ectopic pregnancy, the intramuscular methotrexate single-dose protocol was applied with a dose of 50 mg/m2 of body surface. The study variables were related to the success of the treatment and addressed the clinical characteristics on admission, the complementary exams and the treatment performed. The variables were compared by Poisson regression analysis. The level of significance was set at p < 0.05. Results: The success rate was 83.6%, and in nine cases a second dose of the medication was necessary. An initial ß-hCG level greater than 5,000 mIU/mL was related to a lower chance of success (adjusted odds ratio of 0.20 [0.05- 0.95]). The size of the adnexal image, the presence of free fluid in the abdominal cavity and other variables studied did not affect the chance of a successful treatment. Conclusion: The methotrexate single-dose protocol proved to be a valid option for the treatment of intact ectopic pregnancy, notably when the initial ß-hCG level is below 5,000 mIU/mL.
Asunto(s)
Humanos , Femenino , Embarazo , Metotrexato/administración & dosificación , Metotrexato/uso terapéutico , Primer Trimestre del Embarazo , Líquido Ascítico , Salpingostomía , Fumar/efectos adversos , Dolor Abdominal/complicaciones , Enfermedad Inflamatoria Pélvica , Hospitales Públicos , Infertilidad Femenina/complicaciones , Inyecciones Intramusculares/métodos , Dispositivos Intrauterinos/efectos adversosRESUMEN
OBJETIVO: A dificuldade ou impossibilidade para engravidar representa um problema vivenciado por mulheres no mundo inteiro, o que necessita de ações na área da saúde. OBJETIVO: Descrever um relato de experiência de uma intervenção psicossocial para mulheres com histórico de tentativas de gravidez. MÉTODO: Foram realizados seis encontros por meio do sistema remoto com o auxílio do Google Meet. Participaram sete mulheres, na faixa etária entre 30 e 37 anos, casadas, e com histórico de tratamentos para engravidar. Utilizou-se metodologia da Investigação Ação Participante (IAP) e os encontros iniciavam-se com uma temática proposta para discussão buscando fomentar o compartilhamento de experiências. RESULTADOS: Observou-se que as discussões possibilitaram a expressão de suas angústias provenientes das dificuldades para engravidar, o que inclui pressões sociais, percepções de inferioridade, incompletude, e falta de realização pessoal. CONCLUSÃO: O grupo de discussão representou uma estratégia promotora de mudanças e de reflexão/ação. Este espaço permitiu construir o apoio social para o enfrentamento dos desafios inerentes ao projeto maternal. Sugere-se a continuidade destas intervenções nas unidades de saúde e centros especializados para fomentar a promoção da saúde integral, assim como intervenções futuras que focalizem a inclusão dos cônjuges.
OBJECTIVE: The difficulty or impossibility of getting pregnant represents a problem experienced by women all over the world, which requires actions in the health area. OBJECTIVE: To describe an experience report of a psychosocial intervention for women with a history of pregnancy attempts. METHOD: Six meetings were held through the remote system with the help of Google Meet. Seven women participated, aged between 30 and 37 years old, married, and with a history of treatments to get pregnant. Participating Action Research (PAR) methodology was used and the meetings began with a proposed theme for discussion, seeking to encourage the sharing of experiences. RESULTS: It was observed that the discussions made it possible to express their anxieties arising from difficulties in getting pregnant, which includes social pressures, perceptions of inferiority, incompleteness, and lack of personal fulfillment. CONCLUSION: The discussion group represented a strategy to promote changes and reflection/action. This space made it possible to build social support to coping challenges inherent to the maternal project. It is suggested that these interventions be continued in health units and specialized centers to foster the promotion of comprehensive health, as well as future interventions that focus on the inclusion of spouses.
OBJETIVO: La dificultad o imposibilidad de quedar embarazada representa un problema vivido por mujeres de todo el mundo, que requiere acciones en el área de la salud. OBJETIVO: Describir un relato de experiencia de una intervención psicosocial para mujeres con antecedentes de intentos de embarazo. MÉTODO: Se realizaron seis reuniones a través del sistema remoto con la ayuda de Google Meet. Participaron siete mujeres, con edades entre 30 y 37 años, casadas y con antecedentes de tratamientos para quedar embarazadas. Se utilizó la metodología de Investigación Acción Participativa (IAP) y las reuniones comenzaron con una propuesta de tema de discusión, buscando incentivar el intercambio de experiencias. RESULTADOS: Se observó que las discusiones permitieron expresar sus angustias derivadas de las dificultades para quedar embarazada, que incluye presiones sociales, percepciones de inferioridad, incompletitud y falta de realización personal. CONCLUSIÓN: El grupo de discusión representó una estrategia para promover cambios y reflexión/acción. Este espacio permitió construir apoyo social para enfrentar los desafíos inherentes al proyecto materno. Se sugiere continuar con estas intervenciones en unidades de salud y centros especializados para promover la promoción de la salud integral, así como futuras intervenciones que se centren en la inclusión de los cónyuges.
Asunto(s)
Intervención Psicosocial , Embarazo , Infertilidad FemeninaRESUMEN
The vaginal microbiota is a complex and dynamic environment that plays an important role in the healthy reproduction of women. The mechanism of unexplained infertility is not yet clear, and the imbalance and low stability of vaginal microbiota may be related to unexplained infertility. Taking probiotic composite preparations to restore normal vaginal microbiota may be a safe and natural method for treating unexplained infertility. This article reviews the probiotic composite preparations used in the treatment of unexplained infertility both domestically and internationally, including the isolation site of the bacterial species, the use method of the composite preparation, the course of treatment, and the final therapeutic effect, aiming to provide a basis for the clinical application of probiotic composite preparations in the treatment of unexplained infertility.
Asunto(s)
Femenino , Humanos , Infertilidad Femenina/microbiología , Vagina/microbiología , MicrobiotaRESUMEN
The vaginal microbiota is a complex and dynamic environment that plays an important role in the healthy reproduction of women. The mechanism of unexplained infertility is not yet clear, and the imbalance and low stability of vaginal microbiota may be related to unexplained infertility. Taking probiotic composite preparations to restore normal vaginal microbiota may be a safe and natural method for treating unexplained infertility. This article reviews the probiotic composite preparations used in the treatment of unexplained infertility both domestically and internationally, including the isolation site of the bacterial species, the use method of the composite preparation, the course of treatment, and the final therapeutic effect, aiming to provide a basis for the clinical application of probiotic composite preparations in the treatment of unexplained infertility.
Asunto(s)
Femenino , Humanos , Infertilidad Femenina/microbiología , Vagina/microbiología , MicrobiotaRESUMEN
OBJECTIVE@#To analyze the difference in the gene expression, amino acid and carnitine levels in the cervical secretions between the endometria of pre-receptive and receptive stages, with an aim to provide clues for identifying new molecular markers for endometrial receptivity.@*METHODS@#Fifty nine infertile women treated at the Department of Reproductive Medicine of Linyi People's Hospital from January 6, 2020 to January 31, 2022 were selected as as the study subjects, which were matched with 3 pairs (6 cases) of infertile women preparing for embryo transfer based on factors such as age, body mass index, and length of infertility. Endometrial tissue samples were collected for gene transcription and expression analysis. Twenty five women who had become pregnant through assisted reproductive technology were selected as the control group, and 28 non-pregnant women receiving ovulation monitoring at the Outpatient Department were enrolled as the case group. Status of endometrial receptivity was determined by ultrasonography. In the former group, endometrial tissues were sampled for sequencing, and GO and KEGG database enrichment analysis of differentially expressed genes was carried out. In the latter group, cervical secretions were collected, and amino acid and carnitine levels were measured by mass spectrometry. Statistical analysis was carried out using rank sum test, t test and chi-square test with SPSS v25.0 software.@*RESULTS@#No difference was found in the clinical data of the patients with regard to age, body mass index, infertility years, AMH, FSH, LH, E2, and type of infertility. Compared with the receptive endometrial tissues, there were 100 significantly up-regulated genes and 191 significantly down-regulated genes in the pre-receptive endometrial tissue, with the most significantly altered ones being HLA-DRB5 and MMP10. The biological processes, molecular functions and pathways enriched by more differentially expressed genes in GO and KEGG were mainly immune regulation, cell adhesion and tryptophan metabolism. Analysis of secretion metabolism also revealed a significant difference in the levels of amino acids and carnitine metabolites between the two groups (P < 0.05), in particular those of Alanine, Valine, 3-hydroxybutyrylcarnitine (C4OH) + malonylcarnitine (C3DC)/captoylcarnitine (C10).@*CONCLUSION@#A significant difference has been discovered in the levels of gene transcription and protein expression in the endometrial tissues from the pre-receptive and receptive stages. The levels of amino acids and carnitine, such as Alanine, Valine, 3-hydroxybutyryl carnitine (C4OH)+malonyl carnitine (C3DC)/caproyl carnitine (C10), may be associated with the receptive status of the endometrium, though this need to be verified with larger samples.
Asunto(s)
Embarazo , Humanos , Femenino , Infertilidad Femenina/genética , Endometrio/metabolismo , Aminoácidos/metabolismo , Expresión Génica , Carnitina , Alanina/metabolismo , Valina/metabolismoRESUMEN
Dans une société pro-nataliste, l'infertilité féminine est considérée comme un drame. Cette étude avait pour objectif d'identifier les facteurs associés à l'infertilité mécanique féminine liée aux adhérences pelviennes à Mbujimayi. MéthodologieIl s'agissait d'une étude cas-témoins, réalisée dans les Hôpitaux Généraux de Référence Dipumba et Saint Sauveur à Mbujimayi (RDC), durant une période allant du premier janvier 2006 au 31 décembre 2020. Nous avons colligé un total de 354 cas RésultatsLes facteurs associés à l'infertilité mécanique féminine étaient: l'âge inférieur à 20 ans qui multipliait par 4 le risque de développer des adhérences pelviennes (OR=4,01[1,19-13,49]); l'antécédent des infections sexuellement transmises (IST) (OR=1,77[1,06-2,96]) et l'antécédent de chirurgie abdomino-pelvienne (OR=1,76[1,07-2,88] qui multipliaient respectivement de presque par 2 le risque d'avoir les adhérences pelviennes. Ces associations étaient statistiquement significatives. ConclusionLes IST et la chirurgie abdomino-pelvienne exposent au développement des adhérences pelviennes et/ou aux altérations tubaires conduisant à l'infertilité féminine. Leur prévention doit se baser sur la prise en charge préventive des IST par la sensibilisation pour une sexualité responsable surtout chez les adolescentes, la rationalisation dans les indications et la bonne pratique de la chirurgie abdomino-pelvienne par les médecins.
Introduction: In a pro-natalist society, female infertility is considered a tragedy. This study aimed to identify the factors associated with female mechanical infertility related to pelvic adhesions in Mbujimayi. Methodology This was a case-control study, carried out in Dipumba and Saint Sauveur General Reference Hospitals in Mbujimayi (DRC), during a period from January 1, 2006 until December 31, 2020. We collected a total of 354 cases ResultsThe factors associated with female mechanical infertility were: age below 20 years, which multiplied by 4 the risk of developing pelvic adhesions (OR=4.01 [1.19-13.49]); history of sexually transmitted infections (STI) (OR=1.77[1.06-2.96]) and history of abdomino-pelvic surgery (OR=1.76[1.07-2.88] which respectively increased the risk of having pelvic adhesions by almost 2. These associations were statistically significant. Conclusion: Sexually transmitted infections (STI) and abdomino-pelvic surgery expose the patient to the development of pelvic adhesions and/or tubal alterations leading to female infertility. Their prevention must be based on the preventive management of STI by raising awareness for responsible sexuality, especially among adolescents, the rationalization of the indications and the good practice of abdomino-pelvic surgery by doctors
Asunto(s)
Humanos , Femenino , Enfermedades de Transmisión Sexual , Adherencias Tisulares , Factores de Riesgo , Infertilidad Femenina , Procedimientos Quirúrgicos Ginecológicos , DiagnósticoRESUMEN
OBJECTIVE@#To investigate the relationship between serum 25(OH)D and anti-Müllerian hormone (AMH) among infertile females and their predictive impacts on in vitro fertilization and embryo transfer pregnancy outcome.@*METHODS@#Totally 756 infertile females treated with assisted reproductive technology were enrolled and divided into three groups according to their vitamin D levels (group A with serum 25(OH)D≤10 μg/L, group B with serum (10-20) μg/L, and group C with serum ≥20 μg/L). The serum AMH levels were detected. The differences among the groups were analyzed, as well as the correlation between vitamin D levels and serum AMH levels in various infertility types (fallopian tube/male factor, polycystic ovary syndrome (PCOS), ovulation disorders excluded PCOS, endometriosis, unexplained infertility, and others). Also, the predictive roles of vitamin D and AMH in pregnancy outcome in all the infertile females were discussed.@*RESULTS@#(1) 87.7% of the enrolled females were insufficient or deficient in vitamin D. (2) The serum AMH levels in the three groups with different vitamin D levels were 1.960 (1.155, 3.655) μg/L, 2.455 (1.370, 4.403) μg/L, 2.360 (1.430, 4.780) μg/L and there was no significant difference in serum AMH levels among the three groups (P>0.05). (3) Serum 25(OH)D and AMH levels presented seasonal variations (P < 0.05). (4) There was no prominent correlation between the serum AMH level and serum 25(OH)D level in females of various infertility types after adjusting potential confounding factors [age, body mass index (BMI), antral follicle count (AFC), vitamin D blood collection season, etc.] by multiple linear regression analysis (P>0.05). (5) After adjusting for confounding factors, such as age, BMI, number of transplanted embryos and AFC, the results of binary Logistics regression model showed that in all the infertile females, the serum AMH level was an independent predictor of biochemical pregnancy outcome (P < 0.05) while the serum 25(OH)D level might not act as a prediction factor alone (P>0.05). In the meanwhile, the serum 25(OH)D level and serum AMH level were synergistic predictors of biochemical or clinical pregnancy outcome (P < 0.05).@*CONCLUSION@#Based on the current diagnostic criteria, most infertile females had vitamin D insufficiency or deficiency, but there was not significant correlation between serum 25(OH)D and ovarian reserve. While vitamin D could not be used as an independent predictor of pregnancy outcome in infertile females, the serum AMH level could predict biochemical pregnancy outcome independently or jointly with vitamin D.
Asunto(s)
Femenino , Humanos , Embarazo , Hormona Antimülleriana , Infertilidad Femenina/etiología , Síndrome del Ovario Poliquístico , Resultado del Embarazo , Vitamina D , VitaminasRESUMEN
BACKGROUND@#Polycystic ovary syndrome (PCOS) is the primary cause of anovulatory infertility, bringing serious harm to women's physical and mental health. Acupuncture may be an effective treatment for PCOS. However, systematic reviews (SRs) on the efficacy and safety of acupuncture for PCOS have reported inconsistent results, and the quality of these studies has not been adequately assessed.@*OBJECTIVE@#To summarize and evaluate the current evidence on the efficacy and safety of acupuncture for PCOS, as well as to assess the quality and risks of bias of the available SRs.@*SEARCH STRATEGY@#Nine electronic databases (Cochrane Library, MEDLINE, Embase, PsycINFO, CINAHL, Chinese National Knowledge Infrastructure, Wanfang Data, Chongqing VIP Chinese Science and Technology Periodical Database, and China Biology Medicine disc) were searched from their establishment to July 27, 2022. Based on the principle of combining subject words with text words, the search strategy was constructed around search terms for "acupuncture," "polycystic ovary syndrome," and "systematic review."@*INCLUSION CRITERIA@#SRs of randomized controlled trials that explored the efficacy and (or) safety of acupuncture for treating patients with PCOS were included.@*DATA EXTRACTION AND ANALYSIS@#Two authors independently extracted study data according to a predesigned form. Tools for evaluating the methodological quality, risk of bias, reporting quality, and confidence in study outcomes, including A Measurement Tool to Assess Systematic Reviews 2 (AMSTAR 2), Risk of Bias in Systematic Reviews (ROBIS), Preferred Reporting Items for Systematic Reviews and Meta-analyses for Acupuncture (PRISMA-A), and the Grading of Recommendations Assessment, Development and Evaluation (GRADE), were used to score the included SRs.@*RESULTS@#A total of 885 studies were retrieved, and 11 eligible SRs were finally included in this review. The methodological quality of 2 SRs (18.18%) was low, while the other 9 SRs (81.82%) were scored as extremely low. Four SRs (36.36%) were considered to be of low risk of bias. As for reporting quality, the reporting completeness of 9 SRs (81.82%) was more than 70%. Concerning the confidence in study results, 2 study results were considered to have a high quality of evidence (3.13%), 14 (21.88%) a "moderate" quality, 28 (43.75%) a "low" quality, and 20 (31.24%) considered a "very low" quality. Descriptive analyses suggested that combining acupuncture with other medicines can effectively improve the clinical pregnancy rate (CPR) and ovulation rate, and reduce luteinizing hormone/follicle-stimulating hormone ratio, homeostasis model assessment of insulin resistance, and body mass index (BMI). When compared with medicine alone, acupuncture alone also can improve CPR. Further, when compared with no intervention, acupuncture had a better effect in promoting the recovery of menstrual cycle and reducing BMI. Acupuncture was reported to cause no adverse events or some adverse events without serious harm.@*CONCLUSION@#The efficacy and safety of acupuncture for PCOS remains uncertain due to the limitations and inconsistencies of current evidence. More high-quality studies are needed to support the use of acupuncture in PCOS.
Asunto(s)
Embarazo , Humanos , Femenino , Síndrome del Ovario Poliquístico/etiología , Terapia por Acupuntura/efectos adversos , Infertilidad Femenina/etiología , ChinaRESUMEN
Diminished ovarian reserve (DOR), generally defined as a decreased number or quality of oocytes, has a significant impact on quality of life and fertility in women. In recent years, the incidence of DOR has been increasing and the ages of patients are younger. The search for an effective DOR treatment has emerged as one of the preeminent research topics in reproductive health. An effective DOR therapy would improve ovarian function, fertility, and quality of life in patients. In this review we evaluated DOR treatment progress both in Western medicine and Chinese medicine, and elucidated the characteristics of each treatment.
Asunto(s)
Femenino , Humanos , Medicina Tradicional China , Reserva Ovárica , Calidad de Vida , Oocitos , Resultado del Tratamiento , Infertilidad Femenina/terapiaRESUMEN
OBJECTIVES@#To observe the effects of acupuncture combined with Chinese herbal medication on pregnancy outcomes in patients with recurrent implantation failure (RIF) infertility of kidney deficiency and blood stasis, and to explore its effects on the protein expression of serum p38MAPK and JAK/STAT.@*METHODS@#Sixty-two patients with RIF infertility of kidney deficiency and blood stasis who were scheduled for artificial cycle frozen-thawed embryo transfer were randomly divided into an observation group (31 cases, 4 cases dropped out) and a control group (31 cases, 3 cases were eliminated). The patients in the control group were treated with conventional artificial cycle frozen-thawed embryo transfer. On the basis of the control group, the patients in the observation group were treated with acupuncture combined with Chinese herbal medication. Acupuncture was applied at Baihui (GV 20), Guanyuan (CV 4) and bilateral Neiguan (PC 6), Zigong (EX-CA 1), Guilai (ST 29), Zusanli (ST 36), Taichong (LR 3), Shenshu (BL 23), Ciliao (BL 32), with each session lasting for 30 minutes, once every other day. Chinese herbal medication was administered to Bushen Huoxue (tonifing the kidney and activating blood circulation) decoction, with one dose per day, starting from the 3rd to 5th day of the menstrual cycle and continuing until 1 day before embryo transfer. Clinical pregnancy rate, embryo implantation rate, live birth rate, and biochemical pregnancy rate were compared between the two groups. TCM symptom score, platelet count (PLT), and plasma D-dimer level were assessed before treatment and 1 day before embryo transfer. Western blot method was used to detect the expression of serum P38MAPK, JAK, and STAT proteins before treatment and 1 day before embryo transfer.@*RESULTS@#In the observation group, the clinical pregnancy rate, embryo implantation rate, and live birth rate were higher (P<0.05), while the biochemical pregnancy rate was lower (P<0.05) than those in the control group. One day before embryo transfer, both groups showed a decrease in TCM symptom scores, PLT, and plasma D-dimer levels compared to those before treatment (P<0.05), and the observation group had lower TCM symptom scores and plasma D-dimer levels than the control group (P<0.05). One day before embryo transfer, the expression levels of serum p38MAPK, JAK, and STAT proteins in both groups were lower than those before treatment (P<0.05), and the observation group had lower serum p38MAPK protein expression than the control group (P<0.05).@*CONCLUSIONS@#Acupuncture combined with Chinese herbal medication can improve the clinical pregnancy rate, embryo implantation rate, live birth rate, and reduce the biochemical pregnancy rate in RIF infertility patients of kidney deficiency and blood stasis. Its mechanism of action may be related to down-regulating plasma D-dimer level and protein expression of serum p38MAPK.
Asunto(s)
Embarazo , Femenino , Humanos , Terapia por Acupuntura/métodos , Ciclo Menstrual , Infertilidad Femenina/tratamiento farmacológico , Riñón , Resultado del Tratamiento , Puntos de AcupunturaRESUMEN
Abstract Objective It is well known that female infertility is multifactorial. Therefore, we aimed to compare the effects of thyroid dysfunction, vitamin deficiency, and microelement deficiency in fertile and infertile patients. Materials and Methods Between May 1st, 2017, and April 1st, 2019, we conducted a retrospective case-control study with of 380 infertile and 346 pregnant patients (who normally fertile and able to conceive spontaneously). The fertile patients were selected among those who got pregnant spontaneously without treatment, had a term birth, and did not have systemic or obstetric diseases. The levels of thyroid-stimulating hormone (TSH), triiodothyronine (T3), thyroxine (T4), anti-thyroid peroxidase (anti-TPO), vitamin D, vitamin B12, folic acid, ferritin, and zinc of both groups were compared. Results There was no difference between patients in the infertile and pregnant groups in terms of low normal and high serum T3 and T4 levels (p = 0.938; p > 0.05) respectively, nor in terms of normal and high anti-TPO levels (p = 0.182; p > 0.05) respectively. There was no significant difference regarding patients with low, insufficient, and sufficient vitamin D levels in the infertile and pregnant groups (p = 0.160; p >0.05) respectively. The levels of folic acid, ferritin, and zinc of the infertile group were significantly lower than those of the pregnant group. Conclusion The serum levels of folic acid, ferritin, and zinc in infertile patients presenting to our outpatient clinic were lower than those o the fertile patients.
Resumo Objetivo Sabe-se que a infertilidade feminina é multifatorial. Portanto, nosso objetivo foi comparar os efeitos da disfunção tireoidiana, deficiência de vitaminas e deficiência de microelementos em pacientes férteis e inférteis. Materiais e Métodos Entre 1° de maio de 2017 e 1° de abril de 2019, realizamos um estudo retrospectivo caso-controle com 380 pacientes inférteis e 346 grávidas (normalmente férteis e capazes de conceber espontaneamente). As pacientes férteis foram selecionadas entre aquelas que engravidaram espontaneamente sem tratamento, tiveram parto a termo e não apresentavam doenças sistêmicas ou obstétricas. Os níveis de hormônio estimulante da tireoide (TSH), triiodotironina (T3), tiroxina (T4), antitireoide peroxidase (anti-TPO), vitamina D, vitamina B12, ácido fólico, ferritina e zinco de ambos os grupos foram comparados. Resultados Não houve diferença entre as pacientes dos grupos inférteis e gestantes em relação aos níveis altos de sérumT3 e T4 normais baixos e altos (p = 0,938; p > 0,05), respectivamente nem aos níveis normais e altos de anti-TPO (p = 0,182; p > 0,05), respectivamente. Não houve diferença significativa em relação aos pacientes com níveis baixos, insuficientes e suficientes de vitamina D nos grupos inférteis e gestantes (p = 0,160; p > 0,05), respectivamente. Os níveis de ácido fólico, ferritina e zinco do grupo infértil foram significativamente menores do que os do grupo grávida. Conclusão Os níveis de sérum de ácido fólico, ferritina e zinco nas pacientes inférteis atendidas em nosso ambulatório foram menores do que nas pacientes férteis.
Asunto(s)
Humanos , Femenino , Hormonas Tiroideas , Vitamina B 12 , Vitamina D , Zinc , Ferritinas , Ácido Fólico , Infertilidad FemeninaRESUMEN
O objetivo deste estudo é apresentar uma revisão atualizada sobre o papel dos polimorfismos genéticos na etiologia da endometriose. Trata-se de uma pesquisa bibliográfica feita no PubMed utilizando os descritores "polymorphism and endometriosis". Foram identificados 36 artigos e após aplicação dos critérios de inclusão foram selecionados 17 artigos para a amostra final. Os principais resultados foram: 1) cerca de 60% dos artigos foram publicados em 2019; 2) em 35,3% dos estudos o número de casos e controles investigados foi menor que 100; 3) a maioria dos trabalhos investigou de um a dois polimorfismos por gene; 4) a produção científica sobre endometriose é maior em países orientais; 5) houve heterogeneidade quanto aos periódicos onde os trabalhos foram publicados; 6) as principais técnicas para detecção de polimorfismos foi a PCR-RFLP e o PCR em tempo real, com frequências semelhantes. Em suma, os polimorfismos genéticos podem estar implicados na etiologia da endometriose.
The aim of this study is to present an updated review on the role of genetic polymorphisms in the etiology of endometriosis. This is a literature review made on PubMed using the descriptors "polymorphism and endometriosis". A total 36 articles were identified and, after applying the inclusion criteria, 17 articles were selected for the final sample. The main results were: 1) approximately 60% of the articles were published in 2019; 2) 35.3% of the studies investigated less than 100 cases and controls; 3) most studies investigated one to two polymorphisms per gene; 4) scientific production on endometriosis is higher in Eastern countries; 5) heterogeneity was observed regarding the journals where works were published; 6) the main techniques for detecting polymorphisms were PCR-RFLP and real-time PCR, with similar frequencies. In summary, it can be concluded that genetic polymorphisms may be implicated in the etiology of endometriosis.
Asunto(s)
Humanos , Femenino , Polimorfismo Genético , Endometriosis/diagnóstico , Biomarcadores , Reacción en Cadena de la Polimerasa , Infertilidad Femenina/diagnósticoRESUMEN
El presente escrito aborda la cuestión del proyecto monomarental, sus derroteros y periplos singulares. Al tiempo que en ellos se vislumbra un camino muchas veces compartido y repetido. La temática reviste una presencia estadística en aumento a nivel mundial que visibiliza cambios sociales, económicos y de derechos en la agenda femenina. El objetivo central del escrito radica en describir en primera persona las circunstancias que llevaron a Helen a recurrir a la ovodonación como método reproductivo y los duelos que dicho recorrido encierra. En síntesis, en la historia de Helen se vislumbra de modo paradigmático el encuentro con la imposibilidad del propio cuerpo reproductivo y la solución que ofrece la medicina; al tiempo que en otra cuerda, se trasluce la dimensión singular y clínica de las decisiones subjetivas por las que ella deberá responder
This paper addresses the question of the singleparent project, its paths and unique journeys. At the same time that in them a path many times shared and repeated is glimpsed. The issue has a growing statistical presence worldwide that makes visible social, economic and rights changes on the women's agenda. The central objective of the writing lies in describing in the first person the circumstances that led Helen to resort to egg donation as a reproductive method and the duels that this journey entails. In short, in Helen's story, the encounter with the impossibility of the reproductive body itself and the solution offered by medicine is glimpsed in a paradigmatic way; while on another string, the singular and clinical dimension of the subjective decisions for which she will have to answer shines through
Asunto(s)
Humanos , Femenino , Embarazo , Niño , Adolescente , Adulto , Donación de Oocito , Relojes Biológicos , Tasa de Natalidad , Salud Reproductiva , Infertilidad Femenina , MadresRESUMEN
El presente estudio intenta delinear un paralelismo entre la infertilidad y el cáncer a partir de la contrastación de la bibliografía disponible con la serie New Amsterdam, a la vez que pretende responder a los siguientes interrogantes: ¿qué puntos en común tienen ambas enfermedades? ¿en qué se diferencian? ¿qué rol podemos adoptar desde la psicología y desde la comunidad? Siguiendo esta línea, se encontró que ambas ponen en funcionamiento mecanismos de afrontamiento ya que son enfermedades crónicas que disparan un gran impacto emocional y cambios en la cotidianeidad. Asimismo, la infertilidad se diferencia del cáncer en que no presenta dolor asociado, no hay amenaza hacia la supervivencia y tampoco afecta a la funcionalidad de ningún órgano (Antequera et al, 2008). Estos resultados llevan a plantear una equivalencia en las intervenciones, principalmente psicoeducativas, que pueden ser aplicadas tanto por profesionales de la salud como por miembros de la comunidad, y que redundarían en: mayor adherencia al tratamiento, un rol más activo por parte del paciente en la toma de decisiones, un mayor sentimiento de control sobre su propia vida, entre otras
This study aims to outline a parallelism between infertility and cancer based on the comparison of the available bibliography with the New Amsterdam series, while attempting to answer the following questions: what points do both diseases have in common? What is the difference between them? What role can we adopt from psychology and the community? Following this line, it was found that both put coping mechanisms into operation since they are chronic diseases that trigger a great emotional impact and changes in daily life. Likewise, infertility differs from cancer in that it does not present associated pain, there is no threat to survival and it does not affect the functionality of any organ (Antequera et al, 2008). These results lead to propose an equivalence in interventions, mainly psychoeducational, which can be applied both by health professionals and by members of the community, and which would result in: greater adherence to treatment, a more active role from the patient in decision-making, a greater feeling of control over their own life, among others
Asunto(s)
Humanos , Persona de Mediana Edad , Enfermo Terminal , Pacientes Desistentes del Tratamiento , Emociones , Infertilidad Femenina , Oncología Médica , NeoplasiasRESUMEN
INTRODUCTION: The frequency of the premutation alleles of the FMR1 gene varies from 1:100 to 1:260 Israeli, Canadian, Finnish and American women, but it is unknown in Brazil. Premutation carriers may have reduced reproductive age and are at risk of transmitting the expanded allele to their offspring, and consequently fragile X syndrome. OBJECTIVE: To observe the distribution range of the FMR1 gene alleles in a population of women with idiopathic infertility, without symptoms of premature ovarian insufficiency. METHODS: The presence of premutation in FMR1 was assessed by conventional PCR, agarose, and acrylamide gel and analysis of fragments in capillary electrophoresis. Lymphocyte DNA obtained from 283 women undergoing infertility treatment was analyzed. RESULTS: 169 patients had the normal heterozygous allele (59.7%), 114 had the normal homozygous allele (40.6%) and no patient had the premutation. Premature ovarian insufficiency is seen in 20 to 30% of women with the permutated allele. Thus, the condition can be asymptomatic in a large part of the premutation carriers. Brazil has a diverse population and, therefore, the allele frequencies of many gene variants are unknown. Previous Brazilian studies have shown a low frequency of the premutation allele in different patient cohorts. Corroborating these articles, the results demonstrated that the frequency of the premutation allele is low in the infertile women population studied. CONCLUSION: Tracking the size of the FMR1 gene alleles allows the expansion of knowledge about the frequency of risk alleles associated with genetic diseases in the Brazilian population.
INTRODUÇÃO: A frequência dos alelos pré-mutados do gene FMR1 varia de 1:100 e 1:260 mulheres israelenses, canadenses, finlandesas e americanas, mas é desconhecida no Brasil. Portadoras da pré-mutação podem apresentar redução da idade reprodutiva e possuem risco de transmissão do alelo expandido para a prole, e consequentemente a Síndrome do X frágil. OBJETIVO: Observar a faixa de distribuição dos alelos do gene FMR1 em uma população de mulheres com infertilidade idiopática, sem sintomas de insuficiência ovariana prematura. MÉTODOS: A presença da pré-mutação em FMR1 foi avaliada por PCR convencional, gel de agarose e acrilamida e análise de fragmentos em eletroforese capilar. Analisou-se DNA de linfócitos obtidos de 283 mulheres em tratamento de infertilidade. RESULTADOS: Foi observado que 169 pacientes apresentam o alelo heterozigoto normal (59,7%), 114 apresentam o alelo homozigoto normal (40,6%) e nenhuma paciente apresentou a pré-mutação. A insuficiência ovariana prematura é observada em 20 a 30% das mulheres portadoras do alelo pré-mutado. Assim, a presença de um alelo pré-mutado pode ser assintomática em grande parte dos casos. O Brasil possui uma população diversificada e, portanto, as frequências alélicas de muitas variantes gênicas são desconhecidas. Estudos brasileiros anteriores mostraram uma baixa frequência do alelo pré-mutado em diferentes coortes de pacientes. Corroborando estes autores, os resultados demonstram que frequência do alelo pré-mutado é baixa na população de mulheres inférteis estudada. CONCLUSÃO: O rastreamento do tamanho dos alelos do gene FMR1 permite ampliar o conhecimento sobre a frequência dos alelos de risco para doenças genética na população brasileira.