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      Terapia regenerativa en secuela postquirúrgica de neovagina. Caso clínico con síndrome Mayer-Rokitansky Translated title: Regenerative therapy applied to post-surgical sequelae of neovagina. Case presentation with Mayer Rokitansky síndrome

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          Abstract

          Resumen Las malformaciones congénitas que incluyen agenesia vaginal requieren tratamiento quirúrgico en la infancia, pero las secuelas deformantes se presentan en edad adulta y son un motivo de consulta al que se debe dar solución. Con este caso pretendemos resaltar la importancia de la integración de técnicas quirúrgicas y complementarias en el tratamiento seguro de las secuelas quirúrgicas invalidantes en pacientes sometidas a reconstrucción vaginal, mostrando los resultados del tratamiento combinado con toxina botulínica y células madre adiposas en una paciente con síndrome de Mayer Rokitansky y estenosis vaginal postquirúrgica. Este tratamiento disminuyó el dolor y la contractura del introito vaginal que permitió la exploración física y la reintegración de la paciente a la vida sexual. Nivel de evidencia científica 4d Terapéutico

          Translated abstract

          Abstract Congenital malformations that include vaginal agenesis require surgical treatment in childhood, but deforming sequelae present in adulthood constitute a reason for consultation that must be solved. This case is intended to highlight the importance of integrating surgical and complementary techniques in the safe treatment of disabling surgical sequelae in vaginal reconstruction showing the results of the combined treatment with botulinum toxin and adipose stem cells in a patient with Mayer Rokitansky syndrome and post-surgical vaginal stenosis. This treatment decreased the pain and contracture of the vaginal introitus that allowed physical examination and that patient was reintegrated into sexual life. Level of evidence 4d Terapeutic

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          Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update

          Background Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also referred to as Müllerian aplasia, is a congenital disorder characterized by aplasia of the uterus and upper part of the vagina in females with normal secondary sex characteristics and a normal female karyotype (46,XX). Main body The diagnosis is often made during adolescence following investigations for primary amenorrhea and has an estimated prevalence of 1 in 5000 live female births. MRKH syndrome is classified as type I (isolated uterovaginal aplasia) or type II (associated with extragenital manifestations). Extragenital anomalies typically include renal, skeletal, ear, or cardiac malformations. The etiology of MRKH syndrome still remains elusive, however increasing reports of familial clustering point towards genetic causes and the use of various genomic techniques has allowed the identification of promising recurrent genetic abnormalities in some patients. The psychosexual impact of having MRKH syndrome should not be underestimated and the clinical care foremost involves thorough counselling and support in careful dialogue with the patient. Vaginal agenesis therapy is available for mature patients following therapeutical counselling and education with non-invasive vaginal dilations recommended as first-line therapy or by surgery. MRKH syndrome involves absolute uterine factor infertility and until recently, the only option for the patients to achieve biological motherhood was through gestational surrogacy, which is prohibited in most countries. However, the successful clinical trial of uterus transplantation (UTx) by a Swedish team followed by the first live-birth in September, 2014 in Gothenburg, proofed the first available fertility treatment in MRKH syndrome and UTx is now being performed in other countries around the world allowing women with MRKH syndrome to carry their own child and achieve biological motherhood. Conclusion Several advances in research across multiple disciplines have been made in the recent years and this kaleidoscopic review provides a current status of various key aspects in MRKH syndrome and provides perspectives for future research and improved clinical care.
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            Clinical and genetic aspects of Mayer–Rokitansky–Küster–Hauser syndrome

            The Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome [MIM 277000] is characterised by the absence of a uterus and vagina in otherwise phenotypically normal women with karyotype 46,XX. Clinically, the MRKH can be subdivided into two subtypes: an isolated or type I form can be delineated from a type II form, which is characterised by extragenital malformations. The so-called Müllerian hypoplasia, renal agenesis, cervicothoracic somite dysplasia (MURCS) association can be seen as the most severe phenotypic outcome. The MRKH syndrome affects at least 1 in 4000 to 5000 female new-borns. Although most of the cases are sporadic, familial clustering has also been described, indicating a genetic cause of the disease. However, the mode of inheritance is autosomal-dominant inheritance with reduced penetrance. High-resolution array-CGH and MLPA analysis revealed recurrent aberrations in different chromosomal regions such as TAR susceptibility locus in 1q21.1, chromosomal regions 16p11.2, and 17q12 and 22q11.21 microduplication and -deletion regions in patients with MRKH. Sequential analysis of the genes LHX1, TBX6 and RBM8A, which are located in chromosomal regions 17q12, 16p11.2 and 1q21.1, yielded in the detection of MRKH-associated mutations. In a subgroup of patients with signs of hyperandrogenaemia mutations of WNT4 have been found to be causative. Analysis of another member of the WNT family, WNT9B, resulted in the detection of some causative mutations in MRKH patients.
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              Botulinum toxin in the treatment of refractory vaginismus.

              To investigate the efficacy of botulinum toxin injection to treat women with moderate and severe vaginismus. Twenty-four women referred to our clinic from February 2002 to February 2004 (mean age 25 years; range 19-34 years) with third- to fourth-degree vaginismus were recruited for this study. These women had previous unsuccessful treatments. Botulinum toxin (150-400 mIU) was injected into the puborectalis muscles in 3 sites on each side of the vagina. Twenty-three patients (95.8%) had vaginal examinations 1 week postoperatively that showed little or no vaginismus, 18 (75%) achieved satisfactory intercourse after the first injection, 4 (16.7%) had mild pain, 1 was cured after a second injection, 1 patient refused vaginal examination and did not attempt to have coitus, and another had no coitus as a result of her husband's secondary impotence. The women were followed up for a mean of 12.3 months (range 2-24 months), and there were no cases of recurrence. In refractory cases of vaginismus when conventional therapies have failed, local injection of botulinum toxin can be considered. III.
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                Author and article information

                Journal
                cpil
                Cirugía Plástica Ibero-Latinoamericana
                Cir. plást. iberolatinoam.
                Sociedad Española de Cirugía Plástica, Reparadora y Estética (SECPRE) (Madrid, Madrid, Spain )
                0376-7892
                1989-2055
                September 2023
                : 49
                : 3
                : 293-300
                Affiliations
                [2] La Habana orgnameHospital Clínico Quirúrgico Hermanos Ameijeiras orgdiv1Servicio de Cirugía Plástica y Caumatología Cuba
                [1] La Habana orgnameHospital Clínico Quirúrgico Hermanos Ameijeiras orgdiv1Servicio de Cirugía Plástica y Caumatología Cuba
                Article
                S0376-78922023000300012 S0376-7892(23)04900300012
                10.4321/s0376-78922023000300012
                a2e07cf0-2b0b-4353-b28c-9a19a6d53670

                This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.

                History
                : 08 January 2023
                : 24 July 2023
                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 12, Pages: 8
                Product

                SciELO Spain

                Categories
                Reconstructiva

                Post-surgical vaginal stenosis,Vaginal agenesis,Terapia regenerativa,Toxina botulínica,Estenosis vaginal postquirúrgica,Regenerative therapy,Agenesia vaginal,Totulinum toxin

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