RESUMEN
PURPOSE: Pudendal neuropathy is an uncommon condition that exhibits several symptoms depending on the site of nerve entrapment. This study aims to evaluate the efficacy of pudendal nerve neurolysis (PNN) in improving lower urinary tract symptoms, anal and/or urinary incontinence, and sexual dysfunctions. MATERIALS AND METHODS: A systematic literature search was performed on 20 May 2023 using Scopus, PubMed, and Embase. Only English and adult papers were included. Meeting abstracts and preclinical studies were excluded. RESULTS: Twenty-one papers were accepted, revealing significant findings in the field. The study identified four primary sites of pudendal nerve entrapment (PNE), with the most prevalent location likely being at the level of the Alcock canal. Voiding symptoms are commonly exhibited in patients with PNE. PNN improved both urgency and voiding symptoms, and urinary and anal incontinence but is less effective in cases of long-standing entrapment. Regarding sexual function, the recovery of the somatic afferent pathway results in an improvement in erectile function early after neurolysis. Complete relief of persistent genital arousal disorder occurs in women, although bilateral PNN is necessary to achieve the efficacy. PNN is associated with low-grade complications. CONCLUSIONS: PNN emerges as a viable option for addressing urinary symptoms, fecal incontinence, erectile dysfunction, and female sexual arousal in patients suffering from PNE with minimal postoperative morbidity.
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Nervio Pudendo , Neuralgia del Pudendo , Humanos , Neuralgia del Pudendo/complicaciones , Incontinencia Fecal/etiología , Incontinencia Fecal/terapia , Resultado del Tratamiento , Disfunciones Sexuales Fisiológicas/etiología , Bloqueo Nervioso/métodos , Enfermedades Urogenitales Masculinas , Enfermedades Urogenitales Femeninas/complicaciones , Enfermedades Urogenitales Femeninas/cirugía , Incontinencia Urinaria/etiología , Incontinencia Urinaria/terapiaRESUMEN
Importance: No prior trial has compared hypofractionated postprostatectomy radiotherapy (HYPORT) to conventionally fractionated postprostatectomy (COPORT) in patients primarily treated with prostatectomy. Objective: To determine if HYPORT is noninferior to COPORT for patient-reported genitourinary (GU) and gastrointestinal (GI) symptoms at 2 years. Design, Setting, and Participants: In this phase 3 randomized clinical trial, patients with a detectable prostate-specific antigen (PSA; ≥0.1 ng/mL) postprostatectomy with pT2/3pNX/0 disease or an undetectable PSA (<0.1 ng/mL) with either pT3 disease or pT2 disease with a positive surgical margin were recruited from 93 academic, community-based, and tertiary medical sites in the US and Canada. Between June 2017 and July 2018, a total of 296 patients were randomized. Data were analyzed in December 2020, with additional analyses occurring after as needed. Intervention: Patients were randomized to receive 62.5 Gy in 25 fractions (HYPORT) or 66.6 Gy in 37 fractions (COPORT). Main Outcomes and Measures: The coprimary end points were the 2-year change in score from baseline for the bowel and urinary domains of the Expanded Prostate Cancer Composite Index questionnaire. Secondary objectives were to compare between arms freedom from biochemical failure, time to progression, local failure, regional failure, salvage therapy, distant metastasis, prostate cancer-specific survival, overall survival, and adverse events. Results: Of the 296 patients randomized (median [range] age, 65 [44-81] years; 100% male), 144 received HYPORT and 152 received COPORT. At the end of RT, the mean GU change scores among those in the HYPORT and COPORT arms were neither clinically significant nor different in statistical significance and remained so at 6 and 12 months. The mean (SD) GI change scores for HYPORT and COPORT were both clinically significant and different in statistical significance at the end of RT (-15.52 [18.43] and -7.06 [12.78], respectively; P < .001). However, the clinically and statistically significant differences in HYPORT and COPORT mean GI change scores were resolved at 6 and 12 months. The 24-month differences in mean GU and GI change scores for HYPORT were noninferior to COPORT using noninferiority margins of -5 and -6, respectively, rejecting the null hypothesis of inferiority (mean [SD] GU score: HYPORT, -5.01 [15.10] and COPORT, -4.07 [14.67]; P = .005; mean [SD] GI score: HYPORT, -4.17 [10.97] and COPORT, -1.41 [8.32]; P = .02). With a median follow-up for censored patients of 2.1 years, there was no difference between HYPORT vs COPORT for biochemical failure, defined as a PSA of 0.4 ng/mL or higher and rising (2-year rate, 12% vs 8%; P = .28). Conclusions and Relevance: In this randomized clinical trial, HYPORT was associated with greater patient-reported GI toxic effects compared with COPORT at the completion of RT, but both groups recovered to baseline levels within 6 months. At 2 years, HYPORT was noninferior to COPORT in terms of patient-reported GU or GI toxic effects. HYPORT is a new acceptable practice standard for patients receiving postprostatectomy radiotherapy. Trial Registration: ClinicalTrials.gov Identifier: NCT03274687.
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Prostatectomía , Neoplasias de la Próstata , Hipofraccionamiento de la Dosis de Radiación , Humanos , Masculino , Neoplasias de la Próstata/radioterapia , Neoplasias de la Próstata/cirugía , Neoplasias de la Próstata/patología , Persona de Mediana Edad , Anciano , Enfermedades Gastrointestinales/etiología , Antígeno Prostático Específico/sangre , Enfermedades Urogenitales Masculinas/etiología , Radioterapia Adyuvante/efectos adversos , Medición de Resultados Informados por el PacienteRESUMEN
BACKGROUND: Cystic fibrosis (CF) is an autosomal recessive disorder rarely found in Asian populations. Most males with CF are infertile because of obstructive azoospermia (OA) caused by congenital bilateral absence of the vas deferens (CBAVD). Compound heterozygous mutations of cystic fibrosis transmembrane conductance regulator (CFTR) are among the most common pathogenic factors in CBAVD. However, few genealogical analyses have been performed. METHODS: In this study, whole-exome sequencing and cosegregation analysis were performed in a Chinese pedigree involving two siblings with CBAVD. Moreover, in vitro gene expressions were used to analyze the pathogenicity of a novel CFTR mutation. RESULTS: We identified compound heterozygous mutations of CFTR comprising the known disease-causing variant c.1210-11T>G (also known as IVS9-5 T) and c.2144delA;p.q715fs in two siblings with CBAVD. To verify the effects in vitro, we transfected vectors expressing wild-type and mutated CFTR into 293T cells. The results showed that the CFTR protein containing the frameshift mutation (c.2144delA) was 60 kD smaller. With testicular sperm aspiration/intracytoplasmic sperm injection-embryo transfer (TESA/ICSI-ET), both CBAVD patients fathered healthy offspring. CONCLUSION: Our study revealed that compound heterozygous mutations of CFTR are involved in CBAVD, expanding the known CFTR gene mutation spectrum of CBAVD patients and providing more evidence that compound heterozygous mutations can cause familial CBAVD.
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Fibrosis Quística , Infertilidad Masculina , Enfermedades Urogenitales Masculinas , Humanos , Masculino , Infertilidad Masculina/genética , Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Linaje , Semen , Mutación , Conducto Deferente/anomalías , Fibrosis Quística/genética , Fibrosis Quística/patología , ChinaRESUMEN
Objective: To evaluate trends in the prevalence and clinical characteristics of urogenital diseases in hospitalized patients of secondary and tertiary hospitals in Ningbo, an east coast city in China, from 2017 to 2019. Methods: We collected the data on hospitalized patients in Ningbo secondary and tertiary hospitals from January 1, 2017 to December 31, 2019. The data included age, sex, and diagnosis identified using the International Classification of Diseases (ICD) codes, which were obtained from Ningbo National Health Information Platform. We quantified the epidemiology (age/sex-specific) trend of urogenital system disorders. Results: From January 2017 to December 2019, there were 256750 hospitalized patients with urogenital system disorders. These hospitalized patients comprised more women than men (1.45:1.00). The number of hospitalized patients with these diseases significantly increased over the 3 years (77505, 89167, and 90078, respectively; Z = 20.03, p < 0.001). The highest prevalence of these diseases was in the 40- to 64-year-old age group (47.37%), followed by the 18- to 39-year-old age group (23.94%). Over the 3 years, the five most common diseases in hospitalized male patients were male reproductive organ disorders, urolithiasis, tubulointerstitial disease, renal failure, and glomerular disease; Whereas the five most common diseases in hospitalized female patients were non-inflammatory disorders of the female genital tract, benign or dynamic undetermined tumors of the female reproductive organs, disorders of breast (according to ICD-10, disorders of breast (N60N64) were involved in urogenital system diseases (N00N99)), inflammatory diseases of female pelvic organs, and renal tubulointerstitial disease. In addition, the number of inpatients with renal tubulointerstitial disease significantly increased from 5952 to 9616 over the 3 years (rank increased from 6 to 3) (AU)
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Humanos , Enfermedades Urogenitales Femeninas/epidemiología , Enfermedades Urogenitales Masculinas/epidemiología , Hospitalización/estadística & datos numéricos , China/epidemiología , PrevalenciaRESUMEN
El megaprepucio congénito es una patología urológica propia dela infancia que puede ser fácilmente confundida con otras entidadesclínicas como la fimosis fisiológica o el pene enterrado. Debido al riesgode complicaciones asociadas, principalmente de carácter infeccioso uobstructivo con afectación del tracto urinario superior, es importanteincidir en su correcto diagnóstico de cara a ofertar un tratamiento precoz.Presentamos tres casos de megaprepucio congénito, diagnosticados eintervenidos en nuestro servicio durante el periodo comprendido entreenero de 2019 y mayo de 2020, describiéndose el diagnóstico, la tera-péutica empleada y la evolución clínica.
Congenital megaprepuce is a urological pathology typical ofchildhood. It can be easily mistaken for other clinical entities such asphysiological phimosis or buried penis. Owing to the risk of associ-ated complications primarily infectious and obstructive complications,with upper urinary tract involvement , achieving an accurate diagnosisproves particularly significant for early treatment initiation. We presentthree cases of congenital megaprepuce diagnosed and operated on atour department from January 2019 to May 2020. Diagnosis, therapy,and clinical progression are described.
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Humanos , Masculino , Preescolar , Fimosis/cirugía , Pene , Diagnóstico Diferencial , Prepucio , Prepucio/cirugía , Circuncisión Masculina , Pediatría , Cirugía General , Enfermedades Urogenitales MasculinasAsunto(s)
Humanos , Prevención de Accidentes , Violencia , Maltrato a los Niños , Enfermedades Respiratorias , Enfermedades Cardiovasculares , Enfermedades del Sistema Digestivo , Enfermedades Urogenitales Femeninas , Enfermedades Urogenitales Masculinas , Obstetricia , Enfermedades Hematológicas y LinfáticasRESUMEN
Introducción: Las infecciones urinarias nosocomiales constituyen una complicación frecuente e importante problema de salud debido complicaciones y recidivas frecuentes. Se pretende identificar los microorganismos implicados en las infecciones urinarias nosocomiales, su relación con el uso de sonda y estancia hospitalaria. Materiales y métodos: Estudio descriptivoretrospectivo. Se revisaron bases de vigilancia epidemiológica restringiendo a infección de vías urinarias de origen hospitalario; se describieron las características generales y se exploraron diferencias entre los tiempos de estancia por microorganismo por Kluskal Wallis para un nivel de significancia del 95%. Resultados: Se encontraron 167 de infección de vías urinarias de origen hospitalario, la mediana de edad fue de 75 años; la mayoría de género femenino (58%), 34,1% asociadas al uso de sonda; 10% fallecieron en la hospitalización, la mayoría provenían de la unidad de cuidados intensivos adultos. El microorganismo más frecuentemente aislado fue Escherichia coli (46,1%); los pacientes aportaron una mediana de estancia de 20 días. Se encontraron diferencias significativas en los tiempos de estancia por microorganismo aislado en infección urinaria asociada a sonda, el microorganismo relacionado con los mayores tiempos de estancia fue Proteus mirabillis; el resto de diferencias no fueron significativas. Conclusiones: El microorganismo más frecuentemente aislado fue Escherichia coli, el Proteus mirabillis se encontró fue el más relacionado con uso sonda y tiempo de estancia, se requieren estudios adicionales para determinar asociaciones entre la estancia hospitalaria y fenotipos de resistencia, los protocolos de tratamiento empírico disponibles a la fecha, concuerdan los microorganismos aislados.
Introduction: The nosocomial urinary tract infections are a common complication and a major health problem due to complications and frequent recurrences. It aims to identify microorganisms involved in nosocomial urinary infections, their relationship with the use of probe and hospital stay. Materials & methods: A descriptive retrospective study. Surveillance bases restricting urinary tract infections hospital origins were reviewed; general characteristics were described and differences between the lengths of time of stay were screened by microorganism Kluskal Wallis for a significance level of 95%. Results: 167 urinary tract infections were found of hospital origin, the median age was found to be of 75; most females (58%), 34.1% associated with the use of probe; 10% died in the hospital, most came from the adult intensive care unit. The most frequently isolated microorganism was Escherichia coli (46.1%); patients contributed a median stay of 20 days. Significant differences in length of stay by microorganism isolated in catheter-associated urinary tract infection was found, the microorganism related to the greatest length of stay was Proteus mirabilis; the remaining differences were not significant. Conclusions: The most frequently isolated microorganism was Escherichia coli, Proteus mirabilis was found to be related to probe the use and length of stay, additional studies are required to determine associations between hospital stay and resistance phenotypes empirical treatment protocols available to the date, consistent microorganisms isolated.
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Humanos , Enfermedades Urogenitales Masculinas , Sistema de Transporte , InfeccionesRESUMEN
OBJECTIVES: The people of ancient age appealed to sanctuaries of different gods and goddesses they believed to have healing powers and consecrated anatomical votive offerings representing their sick or healed organs. Male genital organ votives were also present among these votives. In this article, male genital organ votive offerings presented to gods and goddesses were examined and the votives giving information about the diseases they indicated were revealed in contemporary medicine. METHODS: Information available in written resources on ancient medicine and diseases was reviewed. Main sanctuary healing centers in Anatolia (Asia Minor), Greece and Italy which concurrently hosted similar civilizations were investigated. Male genital organ shaped anatomical votive samples in national and foreign medical history and archaeology museums, galleries and special collections were investigated and examined. RESULTS: It was observed that most male genital organ votives had a healthy and normal structure and didnt provide any specific information on a urogenital disease. But it was also observed that some votives among genital organ votives consecrated by sick individuals to gods demonstrated some urogenital diseases and conditions. Among this very limited number of genital votives providing disease information, votives indicating phimosis, hypospadias, varicocele, penile hemangioma or condylama, Peyronies disease or penile curvature, genital hidradenitis suppurativa, condition of pubic hair and erectile condition of penis were detected. CONCLUSIONS: As proofs of seeking a remedy for diseases or recovering from diseases, anatomical organ votives are very important to understand ancient sanctuary medicine. Among male genital organ votives, very limited number of samples providing specific information on diseases provided us important information so that we can understand some ancient age diseases
OBJETIVOS: Los habitantes de la era antigua acudían a santuarios de distintos dioses con la creencia de que éstos tenían poderes curativos y les entregaban ofrendas votivas de partes anatómicas enfermas, bien para que fueran sanados o como ofrenda una vez sanados. Entre estas ofrendas votivas encontramos órganos reproductores masculinos. En este artículo se han revisado y examinado estas ofrendas votivas de órganos reproductores masculinos y de ello se ha podido obtener información sobre enfermedades que existen en la medicina contemporánea. MÉTODOS: La información presente en escritos de medicina ancestral y enfermedades se revisó. Los principales santuarios de sanación en Anatolia (Asia Menor), Grecia e Italia que de forma concurrente tuvieron diferentes civilizaciones, fueron investigadas. La forma del órgano genital masculino en muestras votivas de historia de la medicina nacional y extranjera, museos arqueológicos, galerías y colecciones especiales, fueron investigadas y examinadas. RESULTADOS: Se observa que la mayoría de votivos de órganos genitales masculinos tenían una forma natural y sana y no proporcionaban ninguna información especial respecto a enfermedades urogenitales. Aunque también se observó que algunos votivos de individuos enfermos a dioses si presentaban algunas enfermedades urogenitales y condiciones especiales. Entre los votivos enfermos, encontramos votivos con fimosis, hipospadias, varicocele, hemangioma peneanos y condilomas, enfermedad de Peyronie o curvatura peneana, hidradenitis genital supurativa, desarrollo de pelo púbico y condiciones eréctiles del pene. CONCLUSIONES: Como prueba del interés por encontrar un remedio a las enfermedades o recuperarse de enfermedades, los votivos de órganos anatómicos fueron muy importantes para entender la medicina antigua. Entre todas estas ofrendas votivas de órganos genitales, a pesar de que un número muy limitado de ellas nos ha proporcionado información concreta sobre enfermedades, la información obtenida en ellas ha sido crucial para entender algunas de las enfermedades de la edad antigua
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Humanos , Masculino , Historia Antigua , Enfermedades Urogenitales Masculinas/historia , Pene , Religión y Medicina , Conducta Ceremonial , Museos , Mundo Romano/historia , Mundo Griego/historia , ArqueologíaRESUMEN
No disponible
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Humanos , Masculino , Adolescente , Adulto Joven , Adulto , Persona de Mediana Edad , Infecciones por Chlamydia/microbiología , Infecciones por Chlamydia/orina , Piuria/complicaciones , Enfermedades Urogenitales Masculinas/diagnóstico , Enfermedades Urogenitales Masculinas/orina , Servicios Médicos de Urgencia , Piuria/diagnóstico , Piuria/orina , Chlamydia trachomatis/aislamiento & purificaciónRESUMEN
OBJETIVOS: Evaluar los efectos de la resección transuretral de próstata (RTUP) monopolar (M-RTUP) y bipolar (B-RTUP) sobre la función sexual general. MÉTODOS: De diciembre de 2014 a septiembre de 2016, 100 candidatos elegibles con hiperplasia benigna de próstata fueron reclutados prospectivamente y aleatorizados 1:1 en 2 grupos M-RTUP/B-RTUP (58 y 42 pacientes, respectivamente) y seguidos al mes, 3 y 6 meses. Se realizó un análisis univariado y multivariado utilizando la prueba de chi cuadrado y un modelo de regresión logística. Analizamos la edad, los antecedentes médicos de hipertensión arterial y diabetes, los antecedentes de tabaquismo, el volumen prostático preoperatorio, la escala de síntomas prostáticos, la evaluación de la función sexual, la experiencia del cirujano, los gramos resecados, el porcentaje de tejido resecado y la presencia de eyaculación retrógrada. Los síntomas prostáticos y la evaluación de la función eréctil (FE) se cuantificaron utilizando puntuaciones de IPSS autoadministradas y IIEF-5, respectivamente, al inicio del estudio y en cada visita posterior. RESULTADOS: La edad promedio fue de 66 años (50-82). No se encontraron diferencias estadísticas entre ambos grupos con respecto a comorbilidades médicas, IPSS preoperatorio e IIEF-5. El volumen prostático medio fue de 37,2cm3 (10-68) y la cantidad media de tejido resecado fue de 11,75g (6-58). Al inicio del estudio, el 77,6% de los pacientes presentaban STUI graves, y el 50% tenía una disfunción eréctil moderada-grave. El análisis univariado demostró que, en ambos grupos, los antecedentes de diabetes mellitus, la edad y el IIEF-5 preoperatorio se asociaron con una peor FE. Sin embargo, el análisis multivariado reveló que la edad fue el único factor asociado con una peor FE. Estos resultados fueron similares a los 3 y 6 meses postoperatorios. No encontramos una asociación entre la experiencia del cirujano, el tipo de energía empleada o el porcentaje de tejido resecado con el desarrollo de eyaculación retrógrada postoperatoria (52%). En el primer mes postoperatorio, el 44% de los pacientes aún referían síntomas prostáticos moderados y el 50% tenían disfunción eréctil grave mantenida a los 6 meses en ambos grupos. CONCLUSIONES: No existen diferencias estadísticamente significativas con respecto al tipo de energía empleada y los cambios en la función sexual global. La edad es el único factor que se asocia a una peor FE
OBJECTIVES: To assess the effects of monopolar transurethral resection of the prostate (M-TURP) and bipolar TURP (B-TURP) on overall sexual function. METHODS: From December 2014 to September 2016, 100 eligible candidates with benign prostatic hyperplasia were prospectively recruited and randomized 1:1 into M-TURP/B-TURP arms (58 and 42 patients, respectively) and followed up at 1, 3 and 6 months. A univariate and multivariate analyses using the chi-squared test and a logistic regression model were performed. We recorded the age, medical conditions such as hypertension and diabetes, history of smoking, preoperative prostatic volume, prostatic symptoms scale, sexual function assessment, surgeon experience, resected grams, percentage of resected tissue and presence of retrograde ejaculation. Prostatic symptoms and erectile function (EF) assessment were quantified using self-administered IPSS scores and IIEF-5, respectively, at baseline and in each subsequent visit. RESULTS: Mean age was 66 years (50-82). No statistical differences were found between both groups regarding medical comorbidities, preoperative IPSS and IIEF-5. Mean prostatic volume was 37.2 cm3 (10-68) and mean amount of resected tissue was 11.75g (6-58). At baseline 77,6% of patients has severe LUTS, and 50% has moderate-severe erectile dysfunction. Univariate analyses show that in both groups, history of diabetes mellitus, age and preoperative IIEF-5 were associated with poor EF. However, multivariate analyses revealed that age was the only factor associated with a poor EF. These results were similar at 3 and 6 postoperative months. We did not find an association between surgeon experience, source of energy employed or percentage of resected tissue with the development of postoperative retrograde ejaculation (52%). At first postoperative month, 44% of patients were still referring moderate prostatic symptoms and 50% had severe erectile dysfunction maintained at 6 months in both groups. CONCLUSIONS: There were no differences between the source of energy employed and changes on overall sexual function. Age is the only factor associated with a poor EF status
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Humanos , Masculino , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Hiperplasia Prostática/cirugía , Resección Transuretral de la Próstata/métodos , Hiperplasia Prostática/complicaciones , Disfunción Eréctil , Disfunción Eréctil/etiología , Estudios Prospectivos , Eyaculación/fisiología , Enfermedades Urogenitales Masculinas/fisiopatología , Periodo Preoperatorio , Periodo Posoperatorio , Análisis Multivariante , Modelos Logísticos , Factores de RiesgoRESUMEN
Objective@#To explore the diagnosis, classification and treatment of ectopic seminal tract opening in enlarged prostatic utricle (EPU).@*METHODS@#We retrospectively analyzed the clinical data on 22 cases of ectopic seminal tract opening in EPU confirmed by spermography, EPU open cannula angiography or intraoperative puncture of the vas deferens and treated by transurethral incision of EPU, cold-knife incision or electric incision of EPU, full drainage of the anteriorwal, and open or laparoscopic surgery from October 1985 to October 2017.@*RESULTS@#Five of the patients were diagnosed with ectopic opening of the vas deferens and the other 17 with ectopic opening of the ejaculatory duct in EPU. During the 3-48 months of postoperative follow-up, symptoms disappeared in all the cases, semen quality was improved in those with infertility, and 2 of the infertile patients achieved pregnancy via ICSI.@*CONCLUSIONS@#Ectopic seminal tract opening in EPU is rare clinically. Spermography is a reliable method for the diagnosis of the disease, and its treatment should be aimed at restoring the smooth flow of semen based on proper classification and typing of the disease.
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Humanos , Masculino , Conductos Eyaculadores/cirugía , Enfermedades Urogenitales Masculinas/cirugía , Próstata/cirugía , Estudios Retrospectivos , Análisis de Semen , Vesículas Seminales/cirugía , Conducto Deferente/cirugíaRESUMEN
OBJECTIVES: To evaluate the impact of common Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene mutations, 5T polymorphism and presence of severe Cystic Fibrosis (CF) on fertility outcomes with Assisted Reproductive Techniques (ART) in patients presenting Congenital Bilateral Absence of Vas Deferens (CBAVD). METHODS: A comparative observational cohort study was performed from 2002 to 2018 with 51 patients with diagnosis of CBAVD. Presence of CFTR mutations and 5T, CF, pregnancy and newborn rates were analyzed. RESULTS: 80.4% percent had some mutation of CFTR gene being DeltaF508 the most common (51%). The most frequently described genotype was the 7T/9T (31.4%) with the presence of 5T polymorphism in up to 25.5% of cases. Global newborn rates were 34% in the group using partner spermatozoa. When comparing 5T presence, we observed a decrease in newborn rates when carrying this mutation, without obtaining statistical significance (newborn rate: 5T/non-5T: 7.1/28%, p 0.45). No differences were found when comparing presence of severe CF, common CFTR gene mutations and ICSI-related parameters. CONCLUSION: The analysis of the presence of 5T polymporphism in CBAVD patients may add information when predicting the outcome of assisted reproductive Techniques
OBJETIVOS: Evaluar el impacto de las mutaciones del gen CFTR regulador de la conductancia transmembrana de la fibrosis quística, los polimorfismos 5T y la presencia de fibrosis quística (FQ) grave en los resultados de fertilidad de las técnicas de reproducción asistida en pacientes que presentan ausencia bilateral congénita de conductos deferentes. MÉTODOS: Estudio comparativo observacional de cohortes realizado desde 2002 hasta 2018 con 51 pacientes con el diagnóstico de ausencia bilateral congénita de conductos deferentes. Se analizaron la presencia de mutaciones del gen CFTR y 5T, fibrosis quística y tasas de embarazo y nacimientos. RESULTADOS: 80,4% tenían alguna mutación del CFTR siendo la DeltaF508 la más frecuente (51%). El genotipo descrito con mayor frecuencia era 7T/9T (31,4%) con la presencia de polimorfismo 5T en hasta el 25,5% de los casos. Las tasas de nacimientos globales fueron del 34% en el grupo que utilizaba espermatozoides del marido. Cuando se compara la presencia de 5T, observamos una disminución en las tasas de nacimientos en los portadores de esta mutación, sin obtener significación estadística (Tasa de nacimientos 5T/no-5T: 7,1/28%, p = 0,45). No se encontraron diferencias en la comparativa entre la presencia de FQ severa, mutaciones comunes del gen CFTR y los parámetros relacionados con la ICSI. CONCLUSIONES: El análisis de la presencia de polimorfismo 5T en los pacientes con ausencia bilateral congénita de conductos deferentes puede añadir información para la predicción de los resultados de las técnicas de reproducción asistida
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Humanos , Masculino , Femenino , Embarazo , Recién Nacido , Técnicas Reproductivas Asistidas , Conducto Deferente/anomalías , Enfermedades Urogenitales Masculinas/genética , Estudios de Cohortes , Regulador de Conductancia de Transmembrana de Fibrosis QuísticaRESUMEN
No disponible