Mayer Rokitansky Kuster Hauser Syndrome with Concomitant Turner Syndrome Presented with Primary Amenorrhea in an 18 Year Old Woman: A Case Report

@#<p>Primary amenorrhea is a symptom caused by different rare pathologic conditions. It is commonly seen during adolescence due to the absence of menses during this period. Presented here is a rare case of primary amenorrhea in an 18 year old girl with delayed pubertal growth and short stature which on series of investigations revealed hypergonadotropic hypogonadism, absence of the uterus and non-visualized bilateral ovaries on MRI. Karyotyping showed 45,X0. The coexistence of MRKH and gonadal dysgenesis was considered in this case and has been reported in only a few studies up to this date. Its association is uncommon, hence, a multidisciplinary approach is warranted for the management of her case. Further implications on menses and future fertility options are the main considerations, affecting the quality of life.</p>

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.