Mayer-Rokitansky-Kuster-Hauser Syndrome is a congenital disorder of the female reproductive tract due to impaired Müllerian duct development. There are three known categorical presentations: isolated, atypical, and MURCS association. Several developmentally significant factors including inappropriate AMH/AMHR interaction, and mutations in the WNT gene family and HOXA7-13 cluster have been studied. There has also been investigation into an autosomal dominant pattern of inheritance in families with multiple cases of the syndrome. Due to the presence of multiple subsets of patients with similar genetic abnormalities, it seems unlikely that a single etiology will be discovered.

A síndrome de Mayer-Rokitansky-Kuster-Hauser (MRKH) caracteriza-se pela aplasia congênita dos ductos Mullerianos. Devido a algumas características peculiares, as células-tronco mesenquimais estão sendo vistas como uma nova alternativa de tratamento em pacientes acometidos pela síndrome de MRKH. Considerando que alguns biomateriais servem como suporte estrutural e interferem positivamente na regeneração tecidual, a associação da linhagem celular de mucosa vaginal HMV-II e das MSC derivadas de tecido adiposo humano com biomateriais apresenta uma nova possibilidade na criação de neovagina. Nesta perspectiva, foram cultivadas células HMV-II com diferentes biomateriais (Membracel, Biofilme, Cellprene, PLGA PI quimicamente modificado) a fim de selecionar o melhor material alternativo. Ambas as células, associadas ao biomaterial selecionado, foram submetidas à análise morfológica, coloração ácido periódico-Schiff (PAS), expressão de marcadores epiteliais específicos por imunofluorescência e microcopia eletrônica de varredura (MEV). As células que interagiram com o biomaterial apresentaram marcadores epiteliais específicos e características morfológicas epiteliais. Estes resultados indicam que a interação do biomaterial com ambas as células testadas tem potencial capacidade para uma epitelização eficiente da neovagina. O crescimento das MSC com o biomaterial selecionado para implantação subsequente em pacientes com síndrome de MRKH pode representar uma alternativa válida e promissora para a reconstrução vaginal. / The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the Mullerian ducts. Because mesenchymal stem cells (MSCs) secrete paracrine factors, they have been seen as a new treatment option for several diseases. Considering that some biomaterials can be used as scaffolds and interfere positively in tissue regeneration, the association of human vaginal mucosa (HMV-II) cell line and MSCs with biomaterials appears as a new option for the creation of neovagina. In this study we cultured HMV-II cells with different biomaterials (Membracel, Biofilm, Cellprene, chemically modified PLGA PI) to select the best alternative material. For that both cells were cultured with the selected biomaterial and evaluated by morphological analysis, periodic acid-Schiff (PAS) staining, expression of epithelial markers by immunofluorescence and scanning electron microscopy (SEM). The analysis of the in vitro cell-biomaterial interactions showed specific epithelial markers and epithelial morphological features for both cells. These results indicate that the interaction of the biomaterial with the two tested cells has the potential capacity for an efficient epithelialization of the neovagina. Therefore, growth of MSCs with the selected biomaterial for subsequent implantation in patients with MRKH syndrome may represent a valid and promising alternative for vaginal reconstruction.

A síndrome de Mayer-Rokitansky-Kuster-Hauser (MRKH) caracteriza-se pela aplasia congênita dos ductos Mullerianos. Devido a algumas características peculiares, as células-tronco mesenquimais estão sendo vistas como uma nova alternativa de tratamento em pacientes acometidos pela síndrome de MRKH. Considerando que alguns biomateriais servem como suporte estrutural e interferem positivamente na regeneração tecidual, a associação da linhagem celular de mucosa vaginal HMV-II e das MSC derivadas de tecido adiposo humano com biomateriais apresenta uma nova possibilidade na criação de neovagina. Nesta perspectiva, foram cultivadas células HMV-II com diferentes biomateriais (Membracel, Biofilme, Cellprene, PLGA PI quimicamente modificado) a fim de selecionar o melhor material alternativo. Ambas as células, associadas ao biomaterial selecionado, foram submetidas à análise morfológica, coloração ácido periódico-Schiff (PAS), expressão de marcadores epiteliais específicos por imunofluorescência e microcopia eletrônica de varredura (MEV). As células que interagiram com o biomaterial apresentaram marcadores epiteliais específicos e características morfológicas epiteliais. Estes resultados indicam que a interação do biomaterial com ambas as células testadas tem potencial capacidade para uma epitelização eficiente da neovagina. O crescimento das MSC com o biomaterial selecionado para implantação subsequente em pacientes com síndrome de MRKH pode representar uma alternativa válida e promissora para a reconstrução vaginal. / The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the Mullerian ducts. Because mesenchymal stem cells (MSCs) secrete paracrine factors, they have been seen as a new treatment option for several diseases. Considering that some biomaterials can be used as scaffolds and interfere positively in tissue regeneration, the association of human vaginal mucosa (HMV-II) cell line and MSCs with biomaterials appears as a new option for the creation of neovagina. In this study we cultured HMV-II cells with different biomaterials (Membracel, Biofilm, Cellprene, chemically modified PLGA PI) to select the best alternative material. For that both cells were cultured with the selected biomaterial and evaluated by morphological analysis, periodic acid-Schiff (PAS) staining, expression of epithelial markers by immunofluorescence and scanning electron microscopy (SEM). The analysis of the in vitro cell-biomaterial interactions showed specific epithelial markers and epithelial morphological features for both cells. These results indicate that the interaction of the biomaterial with the two tested cells has the potential capacity for an efficient epithelialization of the neovagina. Therefore, growth of MSCs with the selected biomaterial for subsequent implantation in patients with MRKH syndrome may represent a valid and promising alternative for vaginal reconstruction.

A síndrome de Mayer-Rokitansky-Kuster-Hauser (MRKH) caracteriza-se pela aplasia congênita dos ductos Mullerianos. Devido a algumas características peculiares, as células-tronco mesenquimais estão sendo vistas como uma nova alternativa de tratamento em pacientes acometidos pela síndrome de MRKH. Considerando que alguns biomateriais servem como suporte estrutural e interferem positivamente na regeneração tecidual, a associação da linhagem celular de mucosa vaginal HMV-II e das MSC derivadas de tecido adiposo humano com biomateriais apresenta uma nova possibilidade na criação de neovagina. Nesta perspectiva, foram cultivadas células HMV-II com diferentes biomateriais (Membracel, Biofilme, Cellprene, PLGA PI quimicamente modificado) a fim de selecionar o melhor material alternativo. Ambas as células, associadas ao biomaterial selecionado, foram submetidas à análise morfológica, coloração ácido periódico-Schiff (PAS), expressão de marcadores epiteliais específicos por imunofluorescência e microcopia eletrônica de varredura (MEV). As células que interagiram com o biomaterial apresentaram marcadores epiteliais específicos e características morfológicas epiteliais. Estes resultados indicam que a interação do biomaterial com ambas as células testadas tem potencial capacidade para uma epitelização eficiente da neovagina. O crescimento das MSC com o biomaterial selecionado para implantação subsequente em pacientes com síndrome de MRKH pode representar uma alternativa válida e promissora para a reconstrução vaginal. / The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the Mullerian ducts. Because mesenchymal stem cells (MSCs) secrete paracrine factors, they have been seen as a new treatment option for several diseases. Considering that some biomaterials can be used as scaffolds and interfere positively in tissue regeneration, the association of human vaginal mucosa (HMV-II) cell line and MSCs with biomaterials appears as a new option for the creation of neovagina. In this study we cultured HMV-II cells with different biomaterials (Membracel, Biofilm, Cellprene, chemically modified PLGA PI) to select the best alternative material. For that both cells were cultured with the selected biomaterial and evaluated by morphological analysis, periodic acid-Schiff (PAS) staining, expression of epithelial markers by immunofluorescence and scanning electron microscopy (SEM). The analysis of the in vitro cell-biomaterial interactions showed specific epithelial markers and epithelial morphological features for both cells. These results indicate that the interaction of the biomaterial with the two tested cells has the potential capacity for an efficient epithelialization of the neovagina. Therefore, growth of MSCs with the selected biomaterial for subsequent implantation in patients with MRKH syndrome may represent a valid and promising alternative for vaginal reconstruction.

Against a backdrop of feminist and social scientific research on sex, female embodiment, and normality this thesis aims to discern how young women, who in adolescence have learned that their bodies are developing in ways considered ‘atypical’ for the female sex, make sense of their bodies and their situation. In focus are the ways in which the women make sense of and negotiate female embodiment; how they, particularly in stories about their interactions with others, position their embodied selves; and how norms and beliefs about sexed embodiment, heterosexual practice, and in/fertility are strengthened and challenged in the interviewees’ sense-making. The data comprise 23 in-depth interviews with women who in adolescence have learned that they do not have a uterus and a vagina, or who have learned that they do not have two X chromosomes and have no, or non-functioning, ovaries. Through narrative and thematic analysis the thesis shows how the women’s sense-making can be obstructed by norms about female embodiment, heterosexual practice, and in/fertility, expressed through medical terminology and practice and in interaction with family, friends, and peers, as described by the interviewees. Concomitantly, as the thesis demonstrates, medical terminology can be experienced and function as a resource in the women’s sense-making. Diagnostic categories enable them to put the specificities of sex development into words and raise awareness about bodily variation. Furthermore, in their stories about others’ reactions to their bodies and about their experience and management of certain medical treatments, the women question norms about female embodiment, heterosexual practice, and in/fertility that were previously taken for granted. The complexity of the women’s sense-making is demonstrated through the ways in which the interviewees, on the one hand, align with norms about female embodiment, heterosexual practice, and in/fertility, and in which they, on the other hand, succeed in challenging the same. In this ‘juggling’ of reinforcement and resistance, the thesis argues, the women are found to expand rather than dismiss beliefs about female embodiment.  Thus, the thesis contributes with deepened knowledge about what it can be like to live with these specific conditions and with problematizations of how norms about female embodiment can be enacted and questioned. / Mot bakgrund av feministisk och samhällsvetenskaplig forskning kring kön, kvinnlig kroppslighet och normalitet syftar avhandlingen till att undersöka hur unga kvinnor, som i tonåren fått reda på att deras kropp utvecklas på ett sätt som anses ”otypiskt” för det kvinnliga könet söker förstå och skapa mening kring sin kropp och situation. Framförallt undersöks dessa kvinnors meningsskapande, hur de i sina berättelser positionerar sig i relation till andra, och hur normer och föreställningar om kvinnlig kroppslighet, heterosexuell praktik och in/fertilitet förstås, förhandlas, stärks och ifrågasätts i berättelserna. Materialet som undersöks utgörs av 23 djupintervjuer med kvinnor som i tonåren fått reda på att de antingen inte har någon livmoder och vagina eller att de inte har två X kromosomer och inga eller  icke-fungerade äggstockar. Genom narrativa och tematiska analyser visar avhandlingen hur kvinnornas meningskapande formas av normer kring kvinnlig kroppslighet, heterosexuell praktik och in/fertilitet, då de uttrycks i kvinnornas berättelser om sin situation i möten med andra och i relation till medicinsk praktik. Samtidigt, visar avhandlingen, kan medicinsk terminologi, specifikt diagnoser, och praktik utgöra resurser i kvinnornas meningsskapande som möjliggör för dem att sätta ord på och sprida kunskap om kroppslig variation. I kvinnornas berättelser om andras reaktioner på deras kroppar och om deras erfarenhet och hantering av specifika medicinska behandlingar utmanas vidare normer som kvinnorna tidigare har tagit för givet. Genom analysen framträder således komplexiteten i kvinnornas meningskapande då de å ena sidan anammar förgivettagna normer om kvinnlig kroppslighet, heterosexuell praktik och infertilitet och å andra sidan utmanar de samma. I detta ”jonglerande” av anpassning till normer och motstånd mot desammasyns kvinnorna expandera snarare än avfärda föreställningar om kvinnlig kroppslighet. Avhandlingen fördjupar därmed kunskapen om hur det kan vara att leva med dess specifika tillstånd och till att problematisera hur normer om kvinnlig kroppslighet kan ta sig uttryck och ifrågasättas.