Mayer-Rokitansky-Kuster-Hauser syndrome – An unusual case of primary amenorrhea

The onset of menstruation is a significant milestone of sexual maturation in a girl child. Although there are numerous causes of primary amenorrhea, Mayer-Rokitansky-Küster-Hauser syndrome, also known as Müllerian aplasia, is one of the extremely rare causes of primary amenorrhea which is usually picked up by suitable imaging techniques like magnetic resonance imaging. Affected females have a normal female hormonal function and a normal karyotype but non-functional vagina and uterus which make it an interesting entity. Although specific treatment is not known for this entity except for vaginoplasty and creation of a neovagina for sexual gratification, the clinical and diagnostic workup of these patients has evolved in recent years and infertility treatment and child-bearing through in vitrofertilization have become a part of the long-term treatment plan for these females.

Genitoplastia feminizante en paciente transgénero / Feminizing genitoplasty in a transgender patient

Introducción. La ausencia vaginal tiene un impacto devastador en paciente transgénero de hombre a mujer, por lo tanto, es primordial crear una neovagina de funcionamiento normal con satisfacción sexual, apariencia estética óptima y a su vez las características de micción femenina. Para tal objetivo existen diferentes procedimientos quirúrgicos. La genitoplastia feminizante con colgajo pene escrotal invertido cumple con las necesidades y expectativas del paciente.1-6 Método. En este caso se realizó un análisis descriptivo y retrospectivo de 28 pacientes, transgénero, en los cuales se realizó genitoplastia feminizante con colgajo pene escrotal invertido, con edades entre 18 y 46 años, en un período de 2,5 años desde febrero de 2018 a agosto de 2020. Resultados. La vitalidad del colgajo fue un 100% con una satisfacción sexual del 96,4%, con bajo porcentaje de complicaciones (3%) que incluyen hematoma, dehiscencia y estenosis. Estéticamente la satisfacción fue del 100%. Para muchas pacientes la genitoplastia feminizante es la etapa final de muchas mujeres transgénero en su proceso de confirmación de género.

Introduction. Vaginal absence has a devastating impact on a male to female transgender patient, therefore, it is essential to create a normally functioning neovagina with sexual satisfaction, optimal aesthetic appearance and in turn the characteristics of female urination. For this purpose there are different surgical procedures. Feminizing Genitoplasty with inverted scrotal penis flap meets the needs and expectations of the patient.1-6 Method. In this case, a descriptive and retrospective analysis of 28 transgender patients was performed, in which Feminizing Genitoplasty was performed with an inverted scrotal penis flap, aged between 18 and 46 years, over a period of 2.5 years from february 2018 to august 2020.For many patients, Feminizing Genitoplasty is the final stage for many transgender women in their gender confirmation process. Results. The vitality of the flap was 100% with a sexual satisfaction of 96.4%, with a low percentage of complications in 3% that include hematoma, dehiscence and stenosis, aesthetically we present 100% satisfaction

Citologia oncótica cervicovaginal na população lésbica e transgêneros / Cervicovaginal oncotic cytology in the lesbian and transgender population

O câncer de colo uterino causa a morte de milhares de mulheres no mundo. Entre essas mulheres, há grupos como o de lésbicas e transgêneros que têm dificuldade no rastreio devido à discriminação e ao desconhecimento. As lésbicas e transgêneros masculinos que não fizeram histerectomia total devem se manter no rastreio da mesma forma que as mulheres cisgêneros. Transgêneros femininos devem ser seguidas, porém ainda não há protocolos definidos.(AU)

Cervical cancer causes the death of thousands of women worldwide. Among these women, there are groups, like lesbians and transgenders that present difficulty in screening due to discrimination and lack of knowledge. The lesbians and transgenders men who didn´t have total hysterectomy, must keeping in screening the same way as cisgenders. Transgender woman must be followed, but there aren't definitive guidelines.(AU)

A intervenção fisioterapêutica na reabilitação pós cirurgia de redesignação de sexo masculino para feminino: relato de caso / Physiotherapeutic intervention in the rehabilitation post sex reassignment surgery male to female: a case report

Este relato de caso de uma mulher transexual, 48 anos de idade, com 15 anos de pós cirurgia de redesignação sexual (CRS) sem queixas. Durante a avaliação inicial foram coletados os dados sociodemográficos, avaliação da dor através da escala visual analógica visual (EVA), a qualidade de vida pelo SF-36, a função sexual pelo QS-F. Foi realizada a avaliação do assoalho pélvico (AP) inspeção, palpação e força seguindo o esquema PERFECT. Após a avaliação foram identificadas estenose vaginal, falta de consciência perineal, fraqueza dos músculos do assoalho pélvico e relatou dor durante a relação sexual. INTERVENÇÃO: Foi sugerido um programa de exercícios através dos dilatadores vaginais, terapia comportamental, treino dos músculos do AP. O programa tinha por objetivo 10 sessões com 40 minutos de duração cada, duas vezes na semana. Ao final do programa foram coletadas a EVA, SF-36 e a avaliação do AP seguindo o esquema PERFECT. Entretanto, o QS-F não foi aplicado ao final do programa proposto devido a inatividade sexual da paciente por 3 meses, inclusive durante o tempo do programa. RESULTADOS: Após a avalição final a paciente apresentou melhora da consciência perineal, penetração via vaginal sem desconforto, entretanto, não houve melhora da força dos músculos do AP. CONSIDERAÇÕES FINAIS: A CRS promove alteração anatômica, podendo ocasionar disfunções urogenitais e/ou sexuais. Neste estudo, a fisioterapia promoveu melhora da conscientização perineal e da estenose vaginal. Com tudo, são necessários mais estudos sobre a fisioterapia nesta população, garantindo assistência e acompanhamento de forma adequada durante este processo, reduzindo suas possíveis complicações tardias.

This case report of a transsexual woman, 48 years old, with 15 years after sex reassignment surgery (SRS) without complaints. During the initial assessment, socio-demographic data, pain assessment using the visual analog visual scale (VAS), quality of life by SF-36, sexual function by QS-F were collected. The pelvic floor (PF) assessment was performed for inspection, palpation and strength following the PERFECT scheme. After the evaluation, vaginal stenosis, lack of perineal awareness, weakness of the pelvic floor muscles were identified and pain was reported during intercourse. INTERVENTION: An exercise program through vaginal dilators, behavioral therapy, and PF muscle training was suggested. The program aimed at 10 sessions of 40 minutes each, twice a week. At the end of the program, VAS, SF-36 and PF evaluation were collected following the PERFECT scheme. However, the QS-F was not applied at the end of the proposed program due to the patient's sexual inactivity for 3 months, including during the program period. RESULTS: After the final evaluation, the patient showed improvement in perineal awareness, vaginal penetration without discomfort, however, there was no improvement in the strength of the AP muscles. FINAL REMARKS: The SRS promotes anatomical alteration, which can cause urogenital and / or sexual dysfunctions. In this study, physiotherapy promoted improvement in perineal awareness and vaginal stenosis. However, more studies on physiotherapy are needed in this population, ensuring assistance and adequate followup during this process, reducing possible late complications.

Neovagina creation using sigmoid colon in vaginal agenesis: a case report and review of literature

Mullerian duct anomalies are rare and can present with abnormalities in upper vagina, cervix, uterus, and fallopian tubes. The exact incidence of cervicovaginal agenesis is unknown and there are very few cases recorded in the literature. Authors report a 12-year-old girl referred from gynaecologist with chronic cyclical abdominal pain with underdeveloped, geniatilia and developed secondary sexual characters. Radiological investigations showed hypoplastic cervix with hematometra and left hemato salpinx. A definitive repair with creation of a neovagina using a sigmoid colon segment was performed in a single stage. Many techniques are described for reconstruction of cervicovaginal canal. Use of colon in creation of a neovagina is described by authors. Here we report a case of complete vaginal agenesis presenting with Hematometra-Hematosalpinx where a neovagina was created using a segment of sigmoid colon. Single staged surgery for neovagina creation using segment of sigmoid colon offers a promising and safe alternative for cervicovaginal agenesis.

Reporte de serie de casos: neovagina en pacientes con Síndrome Mayer-Rokitansky-Kuster-Hauser / Case series report: neovagina in patients with Mayer-Rokitansky-Kuster-Hauser Syndrome

RESUMEN INTRODUCCIÓN: La ausencia congénita de vagina es una condición poco común, algunas causas son el síndrome de Mayer-Rokitansky-Kuster-Hauser y la insensibilidad periférica a los andrógenos. Múltiples técnicas quirúrgicas y no quirúrgicas se han descrito para el manejo de esta condición, siendo el objetivo principal la creación de un canal vaginal de diámetro y longitud adecuada que permitan restaurar la función coital. El objetivo de este estudio es detallar la experiencia del procedimiento de neovagina con la técnica quirúrgica de McIndoe en pacientes con Mayer-Rokitansky-Kuster-Hauser realizados en la Unidad de Uroginecología de la Clínica Universitaria Bolivariana. METODOLOGÍA: Reporte de 5 casos de pacientes con agenesia de vagina secundarios al síndrome de Mayer-Rokitansky-Kuster-Hauser, a las cuales se les realizó neovagina con la técnica de McIndoe con algunas modificaciones en el molde para el implante de piel. RESULTADOS: Se incluyeron cinco pacientes con diagnóstico de Mayer-Rokitansky-Kuster-Hauser, todas tenían desarrollo de características sexuales secundarias, perfil hormonal normal, y un cariotipo XX. Se utilizó la técnica quirúrgica de McIndoe para la realización de la neovagina sin complicaciones intraoperatorias asociadas y con adecuada evolución posoperatoria, con una longitud vaginal entre 7-9 cm y 3 pacientes con vida sexual activa. El tiempo de estancia hospitalaria fue 7 a 9 días. CONCLUSIÓN: La técnica quirúrgica de McIndoe es una opción para restaurar la función sexual en mujeres con agenesia vaginal con resultados favorables. El tiempo para decidir su realización es electivo, sin embargo, se debe contar con madurez física y emocional para ser llevado a cabo. Las pacientes de nuestro reporte tenían una edad promedio de 18 años.

SUMMARY INTRODUCTION: The congenital absence of the vagina is an uncommon condition, some causes are the Mayer-Rokitansky-Küster-Hauser syndrome and peripheral insensitivity to androgens. Multiple surgical and non-surgical techniques have been described for the management of this condition, being the main objective the creation of a vaginal canal of adequate diameter and length to restore coital function. The objective of this study is to detail the experience of the neovagina procedure with the McIndoe surgical technique performed in patients with Mayer-Rokitansky-Küster-Hauser syndrome at the Clinica Universitaria Bolivariana. METHODOLOGY: Report of five cases of patients with vaginal agenesis secondary to the Mayer-Rokitansky-Kuster-Hauser syndrome, who underwent neovagina with the McIndoe technique and some modifications in the mold for the skin implant. RESULTS: Five patients with diagnosis of Mayer-Rokitansky-Kuster-Hauser were included, all had development of secondary sexual characteristics, normal hormonal profile, and a XX karyotype. The McIndoe surgical technique was used to perform the neovagina without associated intraoperative complications and with adequate postoperative evolution, with a vaginal length between 7-9 cm and three patients with active sexual life. The length of hospital stay was 7 to 9 days. CONCLUSION: The McIndoe surgical technique is an option to restore sexual function in women with vaginal agenesis with favorable results. The time to decide its realization is elective, however, they must have the physical and emotional maturity to be carried out. The patients in our report have an average age of 18 years.

Coloplastia vaginal, una opción en el tratamiento de la fístula rectovaginal grande / Vaginal coloplasty, an option in the treatment of large rectovaginal fistula

Objetivo: Presentar un tratamiento alternativo para una fistula recto vaginal grande producida por la radiación en una mujer joven tratada por cáncer de cuello uterino, basado en las sigmoideoplastias vaginales en pacientes con agenesia de vagina. Paciente y método: Paciente de sexo Femenino de 36 años que el año 2010 concurre al consultorio de proctología por presentar proctorragia asociada a la defecación de dos semanas de evolución. Antecedentes de conización en el año 2008 por carcinoma epidermoide de cuello uterino y en 2009 irradiada con braquiterapia y radioterapia por presentar recidiva en vagina de cáncer de cuello uterino. Se decide la internación y al día siguiente es llevada a quirófano donde se observa a nivel de recto inferior y medio, fístula con tercio medio e inferior de vagina de unos 4 a 5 cm de diámetro. Dada las características de la misma, el grado de incontinencia de la paciente, su retracción inmediata de sus actividades laborales y sociales, se le plantea la posibilidad de desfuncionalizarla resecado el recto medio e inferior, completar la cirugía oncológica de su cáncer y en un segundo acto reconstruir tanto el tránsito intestinal como su vagina con un segmento vascularizado de colon. Discusión: Existen varias formas de clasificar una fistula rectovaginal, en base a su ubicación, según su diámetro, por último se pueden clasificar según su complejidad en simples y complejas. Dentro de los tratamientos hallamos los perineales, rectales o vaginales, indicados en las fistulas bajas o medias y los abdominales en las fistulas altas. Existen algunas que no responde a los tratamientos habituales o que desde un principio no se pueden tratar por las técnicas habituales, llevando en contadas ocasiones a tratamientos más agresivos como la desfuncionalización, colgajos miocutáneos o la técnica de Simonsen.

Purpose: to present an alternative treatment for rectovaginal fistula secondary to radiation in a young female patient treated for cervical cancer, based on a vaginal sigmoideoplasty. Patient and Method: 36 years old female patient with a 2-week history of rectal bleeding. Personal history of conization in 2008 for cervical squamous carcinoma and postoperative treatment in 2009 with brachytherapy and radiaton therapy for local cancer recurrence. On surgical perineal exploration a recto-vaginal defect of 4-5 cm was identified in the middle-lower vagina. Proctectomy was performed based in surgical principles. During reconstructive surgery the vagina was replaced with a colonic segment. Results: there are several ways to classify a rectovaginal fistula, based on location, diameter and according to their complexity into simple and complex. Rectal, perineal and vaginal approaches have been described. In some cases, more aggressive techniques could be performed such as myocutaneous flaps and Simonsen technique.

Neovagina con revestimiento peritoneal por laparascopia

La agenesia vaginal o Síndrome de Mayer-Rokitansky es una rara anomalía congénita, cuya prevalencia aproximada es de 1 de cada 5 000 mujeres recién nacidas. El tratamiento de estos pacientes representa un reto para el cirujano; se requieren buenos resultados cosméticos y funcionales. Se presenta el caso de una paciente de 41 años con síndrome de Mayer-Rokitansky, a la cual se le construyó una neovagina asistida por laparoscopia, según la técnica de Davydov modificada. No hubo complicaciones inmediatas o mediatas. Se obtuvo una adecuada longitud de vagina, de 7 cm una semana después de la cirugía, y adecuada función sexual seis meses después.

Vaginal agenesis or Mayer-Rokitansky syndrome is a rare congenital anomaly, with prevalence about 1 in 5 000 newborn females. Treatment is a challenge for the surgeon, in order to obtain good cosmetic and functional results. We present the case of a 41 year-old patient with Mayer-Rokitansky syndrome who underwent laparoscopic assisted neovagina according to modified Davydov technique. There were no immediate or mediate complications. An adequate vaginal length was achieved, 7 cm long a week after surgery and adequate sexual function six months later.

Uropatía obstructiva en una paciente con síndrome de Mayer-Rokitansky-Küster-Hauser / Obstructive uropathy in a patient with Mayer-Rokitansky-Küster-Hauser syndrome

El síndrome de Mayer-Rokitansky-Küster-Hauser (MRKH) es una aplasia congénita del útero y los dos tercios superiores de la vagina, debido a falla en el desarrollo de los conductos de Müller entre la quinta y sexta semana de gestación. Se caracteriza por la presencia de amenorrea primaria en mujeres jóvenes que tienen un desarrollo normal de los caracteres sexuales secundarios femeninos, genitales externos normales y un cariotipo normal. Ocurre en aproximadamente una de cada 4500 mujeres y se ha relacionado con mutaciones específcas en genes que median el desarrollo embrionario. La técnica no quirúrgica más utilizada es el método dilatador de Frank, mientras que las alternativas quirúrgicas incluyen las técnicas desarrolladas por McIndoe, Williams, Vecchietti, Davydov y Baldwin

Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a congenital aplasia of the uterus and the upper two thirds of the vagina, due to developmental failure of the Müllerian ducts between the fifth and sixth week of gestation. Be characterized by the presence of primary amenorrhea in young women who have a normal development of female secondary sexual characters, Normal external genitalia and a normal karyotype. It occurs in approximately one in 4500 women and has been linked to specific mutations in genes that mediate embryonic development. Nonsurgical technique The most widely used is Frank's dilator method, while surgical alternatives include the techniques developed by McIndoe, Williams, Vecchietti, Davydov and Baldwin

Síndrome de Mayer-Rokitansky-Küster-Hauser (MRKH): enfoque diagnóstico y terapéutico de un cuadro poco frecuente / Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: diagnostic and therapeutic approach of a rare disease

Introduccion: El síndrome de Mayer-Rokitansky-Küster-Hauser se caracteriza por la agenesia de vagina y útero en unamujer con desarrollo normal de caracteres sexuales y amenorrea primaria.Objetivo: Evaluación diagnóstica y posibilidades terapéuticas de un síndrome poco frecuente.Material y método: Presentamos un caso de síndrome de Rokitansky.Resultados: La paciente tuvo un desarrollo normal de caracteres sexuales secundarios. La analítica mostró normofunciónhormonal y cariotipo 46 XX. Ante la sospecha clínica se solicitó resonancia magnética nuclear pélvica, siendo informadala ausencia de útero. El tratamiento fue diferido hasta la asimilación del diagnóstico por parte de la paciente y la familia.Conclusiones: La sospecha diagnóstica es clave. La exploración, junto con la analítica y las pruebas de imagen debenconfirmar el síndrome. La laparoscopia es la vía terapéutica de elección.

Descripción de técnica simplificada de neovagina: reporte de 4 casos: Cali (Colombia) / A description of a simplified neovagina technique: a report of 4 cases from Cali, Colombia

Introducción: la agenesia de vagina representa una malformación infrecuente cuyas principales causas son el síndrome de Rokitansky-Mayer-Kuster-Hauser y la insensibilidad a los andrógenos o síndrome de feminización testicular. Su tratamiento se enfoca a la restauración de la función sexual y la mayoría de técnicas quirúrgicas descritas se caracterizan por su complejidad y requerimiento de instrumentos especiales. El objetivo de este documento es la presentación de una técnica simplificada de neovagina. Metodología: reporte de 4 pacientes con agenesia de vagina a las que se les realizó una neovagina a través de una modificación de la técnica de McIndoe mediante la utilización de compresa adsorbente de bacterias, con seguimiento de 8 a 18 meses. Resultados: se intervinieron tres pacientes con síndrome Rokitansky-Mayer-Kuster-Hauser y la cuarta con síndrome de feminización testicular y cariotipo XY. En uno de los casos se evidenció ruptura de recto distal al inicio de la cirugía, complicación que se identificó y corrigió de manera primaria con adecuada evolución. El tiempo de hospitalización varió de 2 a 3 días. No hubo evidencia de complicaciones a mediano y largo plazo, y se documentó el inicio de relaciones sexuales alrededor de 40 días posteriores a la intervención. Conclusión: la técnica quirúrgica descrita surge como una opción que hace el procedimiento más sencillo para restaurar la función sexual de mujeres con esta afección.

Introduction: vaginal agenesis represents a rare malformation, mostly associated with Mayer-Rokitansky-Kuster-Hauser syndrome and androgen insensitivity syndrome or testicular feminisation syndrome. Treatment focuses on restoring sexual function and most surgical techniques are characterised by their complexity and require special instruments. This paper was aimed at presenting a simplified neovagina technique. Methodology: four cases of patients suffering vaginal agenesis are reported; they underwent a modification of the McIndoe technique by using absorbent antimicrobial barrier dressings which simplifies the procedure and reduces implementation costs. They were followed-up for 8-18 months and suitable results were obtained. Results: three patients suffering from MRKH syndrome were treated; the fourth one had testicular feminisation syndrome (XY karyotype). A rupture of the distal colon or rectum was seen at the start of surgery in one case; such complication was identified and corrected, presenting suitable evolution. Hospital stay varied from 2-3 days. No medium or long-term complications were presented. Sexual relationships were documented as having begun around 40 days later. Conclusion: the surgical technique described here represents an option for restoring sexual function in women suffering from this condition.