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1.
Ceska Gynekol ; 86(1): 36-39, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33752407

RESUMO

OBJECTIVE: To describe the case of a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome and a history of chronic pelvic pain due to myomas in the rudimentary uterine horns. The article highlights a rare origin of gynaecological pain. CASE REPORT: We present the case of 61-year-old woman with MRKH syndrome who has suffered from chronic abdominal pain for more than one year before surgery. Using magnetic resonance imaging and ultrasonography, a suspicion on the tumours of uterine myoma character in the rudimentary horns was suggested. It was confirmed by laparoscopy. Myomas were removed in the endobag and histopathologically confirmed. CONCLUSION: MRKH syndrome is a very rare disease. Approximately ten women are annually born with this congenital anomaly in the Czech Republic. While myoma incidence is extremely rare in this group of women, it must be taken into account in differential dia-gnosis and solved surgically in time.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual , Anormalidades Congênitas , Mioma , Transtornos 46, XX do Desenvolvimento Sexual/cirurgia , Animais , Anormalidades Congênitas/diagnóstico por imagem , República Tcheca , Feminino , Humanos , Pessoa de Meia-Idade , Ductos Paramesonéfricos/anormalidades
2.
Anaesthesia ; 76 Suppl 4: 39-45, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33682101

RESUMO

Adolescents represent a quarter of the world's population, yet their specific healthcare needs have often not been acknowledged. Whilst many operations in this population will be performed in specialist tertiary centres and children's hospitals, it is likely that care will be sought in a variety of healthcare settings, and so it is important to have an understanding of the particular approach to this age group. Paediatric and adolescent gynaecology emerged as a speciality in 2000 with the inauguration of the British Society for Paediatric and Adolescent Gynaecology, a specialist society of the Royal College of Obstetricians and Gynaecologists. This is a multidisciplinary group, comprising paediatricians, paediatric surgeons, psychologists and nurses, although the majority of the members are gynaecologists. In this review, we will describe the peri-operative implications of adolescent gynaecological surgery and the considerations that need to be applied to this specific age group, such as consent, the operative setting and key personnel. We will also discuss specialist situations which are likely to fall to an adolescent gynaecology setting, such as management of those with Mullerian abnormalities, which often present with pelvic pain in adolescence. We discuss those with a history of ritual female genital cutting (female genital mutilation), trans men and those with significant learning difficulties. In all circumstances, teamwork, reflection and pragmatism are key.


Assuntos
Anestésicos/administração & dosagem , Ductos Paramesonéfricos/cirurgia , Adolescente , Feminino , Genitália Feminina/cirurgia , Humanos , Laparoscopia , Ductos Paramesonéfricos/anormalidades , Assistência Perioperatória , Pessoas Transgênero
3.
Hum Genet ; 140(4): 667-680, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33469725

RESUMO

PURPOSE: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome consists of congenital absence of the uterus and vagina and is often associated with renal, skeletal, cardiac, and auditory defects. The genetic basis is largely unknown except for rare variants in several genes. Many candidate genes have been suggested by mouse models and human studies. The purpose of this study was to narrow down the number of candidate genes. METHODS: Whole exome sequencing was performed on 111 unrelated individuals with MRKH; variant analysis focused on 72 genes suggested by mouse models, human studies of physiological candidates, or located near translocation breakpoints in t(3;16). Candidate variants (CV) predicted to be deleterious were confirmed by Sanger sequencing. RESULTS: Sanger sequencing verified 54 heterozygous CV from genes identified through mouse (13 CV in 6 genes), human (22 CV in seven genes), and translocation breakpoint (19 CV in 11 genes) studies. Twelve patients had ≥ 2 CVs, including four patients with two variants in the same gene. One likely digenic combination of LAMC1 and MMP14 was identified. CONCLUSION: We narrowed 72 candidate genes to 10 genes that appear more likely implicated. These candidate genes will require further investigation to elucidate their role in the development of MRKH.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual/genética , Anormalidades Congênitas/genética , Ductos Paramesonéfricos/anormalidades , Útero/anormalidades , Vagina/anormalidades , Transtornos 46, XX do Desenvolvimento Sexual/patologia , Animais , Anormalidades Congênitas/patologia , Feminino , Variação Genética , Humanos , Masculino , Camundongos , Ductos Paramesonéfricos/patologia , Translocação Genética , Sequenciamento Completo do Exoma
4.
Am J Hum Genet ; 108(2): 337-345, 2021 02 04.
Artigo em Inglês | MEDLINE | ID: mdl-33434492

RESUMO

Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is associated with congenital absence of the uterus, cervix, and the upper part of the vagina; it is a sex-limited trait. Disrupted development of the Müllerian ducts (MD)/Wölffian ducts (WD) through multifactorial mechanisms has been proposed to underlie MRKHS. In this study, exome sequencing (ES) was performed on a Chinese discovery cohort (442 affected subjects and 941 female control subjects) and a replication MRKHS cohort (150 affected subjects of mixed ethnicity from North America, South America, and Europe). Phenotypic follow-up of the female reproductive system was performed on an additional cohort of PAX8-associated congenital hypothyroidism (CH) (n = 5, Chinese). By analyzing 19 candidate genes essential for MD/WD development, we identified 12 likely gene-disrupting (LGD) variants in 7 genes: PAX8 (n = 4), BMP4 (n = 2), BMP7 (n = 2), TBX6 (n = 1), HOXA10 (n = 1), EMX2 (n = 1), and WNT9B (n = 1), while LGD variants in these genes were not detected in control samples (p = 1.27E-06). Interestingly, a sex-limited penetrance with paternal inheritance was observed in multiple families. One additional PAX8 LGD variant from the replication cohort and two missense variants from both cohorts were revealed to cause loss-of-function of the protein. From the PAX8-associated CH cohort, we identified one individual presenting a syndromic condition characterized by CH and MRKHS (CH-MRKHS). Our study demonstrates the comprehensive utilization of knowledge from developmental biology toward elucidating genetic perturbations, i.e., rare pathogenic alleles involving the same loci, contributing to human birth defects.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual/genética , Anormalidades Congênitas/genética , Ductos Paramesonéfricos/anormalidades , Ductos Paramesonéfricos/crescimento & desenvolvimento , Mutação , Ductos Mesonéfricos/crescimento & desenvolvimento , Adulto , Proteína Morfogenética Óssea 4/genética , Proteína Morfogenética Óssea 7/genética , Códon sem Sentido , Feminino , Estudos de Associação Genética , Pleiotropia Genética , Proteínas Homeobox A10/genética , Proteínas de Homeodomínio/genética , Humanos , Fator de Transcrição PAX8/genética , Herança Paterna , Penetrância , Proteínas com Domínio T/genética , Fatores de Transcrição/genética , Proteínas Wnt/genética , Ductos Mesonéfricos/anormalidades
5.
Obstet Gynecol ; 137(2): 241-249, 2021 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-33416285

RESUMO

OBJECTIVE: To describe aggregated pregnancy outcomes after uterus transplantation from a single, experienced center. METHODS: This prospective study reports on live births among 20 women who received a uterus transplant from 2016 to 2019 at Baylor University Medical Center at Dallas. These live births occurred between November 2017 and September 2020. The main measures were live birth, maternal complications, and fetal and newborn outcomes. RESULTS: There were six graft failures (four surgical complications and two with poor perfusion postoperatively). Of the 14 technically successful transplants, at least one live birth occurred in 11 patients. Thus far, the live birth rate per attempted transplant is 55%, and the live-birth rate per technically successful transplant is 79%. Ten uteri were from nondirected living donors and one uterus was from a deceased donor. In vitro fertilization was performed to achieve pregnancy. Ten recipients delivered one neonate, and one recipient delivered two neonates. One organ rejection episode was detected during pregnancy and was resolved with steroids. The median birth weight was 2,890 g (range 1,770-3,140 g [median 68th percentile]). Maternal weight gain was higher than Institute of Medicine recommendations. Maternal medical complications were observed in five recipients (elevated creatinine level, gestational diabetes, gestational hypertension [n=2], and preeclampsia). In five recipients, maternal medical or obstetric complications led to an unplanned preterm delivery (elevated creatinine level, preeclampsia; preterm labor [n=3]). The median gestational age at delivery was 36 6/7 weeks (range 30 6/7-38 weeks). All neonates were liveborn, with Apgar scores of 8 or higher at 5 minutes. CONCLUSION: Over the first 3 years, our program experienced a live-birth rate per attempted transplant of 55% and a live-birth rate per technically successful transplant of 79%. In our experience, uterus transplantation resulted in a third-trimester live birth in all cases in which pregnancies reached 20 weeks of gestation. Maternal medical and obstetric complications can occur; however, these were manageable by applying principles of generally accepted obstetric practice. CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov, NCT02656550.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual , Anormalidades Congênitas , Nascimento Vivo , Ductos Paramesonéfricos/anormalidades , Complicações Pós-Operatórias , Complicações na Gravidez , Útero/transplante , Adulto , Feminino , Humanos , Gravidez , Estudos Prospectivos , Adulto Jovem
6.
BMC Womens Health ; 20(1): 135, 2020 06 29.
Artigo em Inglês | MEDLINE | ID: mdl-32600323

RESUMO

BACKGROUND: The Mayer-Rokitansky-Küster-Hauser syndrome, MRKHS, is a rare (orphan) disease characterized by the aplasia or hypoplasia of the uterus and the vagina. In women's health research, little is known as to how much care provision for patients with MRKHS takes into account their socio-demographic together with their clinical characteristics. This work examines the patients' socio-demographic characteristics, highlighting issues of inappropriate and deficient provision of care. METHODS: The study was carried out as part of the larger TransCareO project and included a group of N=129 MRKHS patients who underwent surgery between 2008 and 2012. Using a specially developed questionnaire, we analyzed MRKHS patients' data found both in the clinical documentation of the Department for Women's Health, University Hospital of Tübingen and the patient surveys of the Center for Rare Genital Malformations (CRGM/ ZSGF). Patients who took part in interviews were compared with non-respondents. RESULTS: Patient respondents and non-respondents did not differ as to the parameters of interest. In most cases, primary amenorrhea was reported as an admission reason. In 24% of patients, a medical intervention (hymenal incision or hormone treatment) already occurred before admission to the Center in Tübingen and proper diagnosis of MRKHS. About one third received in advance inappropriate treatment. During the therapy, more than half of the patients were in a solid partnership. 10% of the family anamneses documented the occurrence of urogenital malformations. CONCLUSIONS: Care provision for MRKHS patients is largely characterized by delayed proper diagnosis and in part, by inappropriate treatment attempts; there are also indications of regional differences. Anamnestic clues such as an asymptomatic amenorrhea or renal abnormalities of unclear origin still fail to result early enough in referral to a center on the basis of suspected MRKHS diagnosis. Urogenital malformations in the family are more common in patients than in the general population. For patients, a wide range of burdens are associated with the diagnosis. Abnormalities compared to their female peers occur, for instance, in the partnership status: MRKHS patients have more rarely a partner.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual/diagnóstico , Anormalidades Congênitas/diagnóstico , Ductos Paramesonéfricos/anormalidades , Útero/anormalidades , Vagina/anormalidades , Adolescente , Adulto , Feminino , Pesquisa sobre Serviços de Saúde , Humanos , Pessoa de Meia-Idade , Doenças Raras , Fatores Socioeconômicos , Saúde da Mulher , Adulto Jovem
8.
Ecotoxicol Environ Saf ; 202: 110819, 2020 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-32590208

RESUMO

OBJECTIVE: To ascertain the prevalence of Müllerian anomalies within an obstetrical population in relation to official hazardous waste sites designated by the Environmental Protection Agency (EPA) in West Virginia. METHODS: Observational study of obstetric patients in a tertiary care center with uterine ultrasounds from January 2006 to June 2017. An Optimized Hot Spot analysis and Ripley's K- Function was constructed to ascertain if there is an association with environmental exposures. RESULTS: The prevalence of Müllerian anomalies in our obstetric study sample was 0.9% (118/13,040). The most common were septate (47; 39.8%) and bicornuate (46; 39.0%). The distribution of Müllerian anomalies was non-random illustrated by Optimized Hot Spot Analysis locating several statistically significant zip codes of Müllerian anomalies in relation to zip codes that include EPA facilities. CONCLUSION: The distribution of Müllerian anomalies was clustered in watershed areas along the Kanawha River in West Virginia that have been designated as EPA FRS Sites and Superfund Sites.


Assuntos
Exposição Ambiental , Ductos Paramesonéfricos/anormalidades , Adulto , Feminino , Humanos , Resíduos Industriais , Indústrias , Gravidez , Prevalência , Projetos de Pesquisa
9.
Arch Gynecol Obstet ; 301(6): 1455-1461, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32306055

RESUMO

PURPOSE: Abnormalities during Müllerian duct and female reproductive tract formation during embryonic development result in Müllerian duct anomalies (MDA). Previous studies have identified a role for mutations in related genes and DNA copy number variation (CNV). However, the correlation between gene methylation and MDA remains to be understood. METHODS: Endometrial tissues were collected from patients with septate (n = 23) or normal uterus (n = 28). We detected the methylation status of CpG sites and mRNA levels of nine candidate genes, including HOXA10, EMX2, TP63, ITGB3, PAX2, LHX1, GSC, WNT4, and H19, using MethyTarget and quantitative real-time polynucleotide chain reaction (qRT-PCR), respectively RESULTS: Compared with healthy controls, we detected three hypomethylated CpG sites (P < 0.05) and increased mRNA levels of PAX2 (P < 0.05) in individuals with MDA. HOXA10, EMX2, TP63, ITGB3, LHX1, and GSC had 1, 1, 2, 1, 5, and 2 differentially methylated CpG sites (P < 0.05), respectively, but there were no significant differences in their mRNA levels (P > 0.05). WNT4 and H19 did not show differences in methylation (P > 0.05) and mRNA levels (P > 0.05). CONCLUSIONS: Aberrant DNA methylation within the promoter of PAX2 may contribute to the development of MDA by regulating its gene expression. However, the methylation status of HOXA10, EMX2, TP63, ITGB3, LHX1, GSC, WNT4, and H19, may not contribute to the development of MDA.


Assuntos
Metilação de DNA/genética , Ductos Paramesonéfricos/anormalidades , Fator de Transcrição PAX2/genética , Adulto , Feminino , Humanos
11.
Adv Clin Exp Med ; 29(4): 505-511, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32348039

RESUMO

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian agenesis or aplasia, is a congenital disease manifested by the aplasia of the uterus and the upper 2/3 of the vagina; its incidence is 1 in 4,000-5,000 female live births. We can distinguish 2 types of the MRKH syndrome: type I, which is characterized by an isolated absence of 2/3 of the vagina and uterus; and type II or MURCS (Müllerian duct aplasia, unilateral renal agenesis and cervicothoracic somite anomalies), which is also associated with other symptoms. The treatment of the MRKH syndrome patients aims at creating a neovagina and enabling sexual intercourse. Non-surgical techniques are the first-choice methods, and more than 90% of patients notice an anatomical and functional improvement if they are well-prepared emotionally. If non-surgical treatment does not bring about the expected results, a surgical procedure remains an option. The surgical method is mainly determined by the surgeon's experience. There are a few types of operations, though none of them seems superior to others. The next challenge is to provide these patients with a chance to become parents. Nowadays, a uterine transplant, a surrogate or adoption are the available solutions. An interdisciplinary approach is required, and the treatment should consist of medical and psychological support. This review presents the current knowledge about the MRKH syndrome with regard to the current methods of non-surgical and surgical treatment as well as a summary of the associated psychological problems.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual , Anormalidades Congênitas , Ductos Paramesonéfricos/anormalidades , Transtornos 46, XX do Desenvolvimento Sexual/diagnóstico , Transtornos 46, XX do Desenvolvimento Sexual/genética , Transtornos 46, XX do Desenvolvimento Sexual/cirurgia , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/genética , Anormalidades Congênitas/cirurgia , Feminino , Humanos , Ductos Paramesonéfricos/cirurgia , Útero/anormalidades , Vagina/anormalidades
12.
J Pediatr Adolesc Gynecol ; 33(4): 410-414, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32224249

RESUMO

STUDY OBJECTIVE: This study aimed to evaluate the reproductive potential of patients with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) who were candidates for uterus transplantation (UTx) before inclusion in the experimental trial, and to summarize the existing experience with posttransplantation embryo transfers in functionally successful cases. DESIGN AND SETTING: A prospective study at a tertiary medical center. PARTICIPANTS: Ten pre-UTx women with MRKHS and 7 successful UTx cases. INTERVENTIONS AND MAIN OUTCOME MEASURES: Ovarian stimulations, frozen embryo collection, embryo transfers, and incidence of pregnancy in MRKHS women in the pre- and posttransplantation periods. RESULTS: The average number of ovarian stimulations to collect the required frozen embryos was 1.9 (1-3). On average, the number of aspirated oocytes was 16.4 (7-38), 12.6 (5-26) oocytes were fertilized, and 7.0 (1-18) embryos were cryopreserved per cycle. To date, the average number of embryo transfers per recipient was 4.9 (3-8), and the embryo transfer/pregnancy rate was 8.8% (3 of 34). Three pregnancies have been achieved to date, including a missed abortion in the 8th week, a birth in the 35th week, and an ongoing pregnancy in the 30th week. CONCLUSIONS: Despite the small number of UTx cases, our data indicated that women with MRKHS showed a good response to ovarian stimulation and blastocyst formation. Although the procedures for fertilization, cryopreservation, and transfer of the embryos were standardized, the success rate per embryo transfer achieved in the study group has been low to date.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual/cirurgia , Anormalidades Congênitas/cirurgia , Ductos Paramesonéfricos/anormalidades , Taxa de Gravidez , Útero/transplante , Adulto , República Tcheca , Transferência Embrionária/estatística & dados numéricos , Feminino , Humanos , Ductos Paramesonéfricos/cirurgia , Recuperação de Oócitos/estatística & dados numéricos , Indução da Ovulação/estatística & dados numéricos , Gravidez , Estudos Prospectivos
13.
Eur Radiol ; 30(7): 4014-4022, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32140817

RESUMO

OBJECTIVES: To comprehensively evaluate the pelvic magnetic resonance imaging (MRI) findings of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome and summarize the typical and atypical characteristics. METHODS: A retrospective analysis of 201 consecutive MRKH patients was carried out. Pelvic MRI was reviewed by two experienced gynecological radiologists in consensus. Characteristics including the morphology, signal pattern and volumes of the uterine rudiments, location and volume of the ovaries, and the degree of vaginal dysgenesis were evaluated. Other noted abnormalities were also recorded. RESULTS: Morphologically, the majority (95%) of patients displayed bilateral uterine rudiments combined with a fibrous band. The minority of patients showed no (3.5%) or unilateral (1.5%) uterine rudiments. A total of 385 uterine rudiments were detected which showed four types of signal patterns: one-layer differentiation (325, 84.4%), two-layer differentiation (27, 7%), three-layer differentiation without subsequent alteration (23, 6.0%), and three-layer differentiation with hematometra and/or ipsilateral hematosalpinx (10, 2.6%). The median volumes of these four types of uterine rudiments were 2.6 ml (1.69-3.81 ml), 3.19 ml (2.67-4.51 ml), 6.05 ml (3.37-12.44 ml), and 31.97 ml (19.2-38.7 ml), respectively. The mean ovarian volume was 6.49 ± 3.91 ml. Abnormally located ovaries were detected in 63 (31.3%) patients. The distal vagina was discernable in 25.1% of patients. CONCLUSION: MRKH patients typically display bilateral uterine rudiments combined with a fibrous band and normally located ovaries. The uterine rudiments are generally small with only one-layer differentiation, a subset of which might be large and exhibited other atypical presentations, including two- or three-layer differentiation or even hematometra. Abnormally located ovaries are not rare. KEY POINTS: • Morphologically, MRKH patients typically displayed bilateral uterine rudiments combined with a fibrous band. • Typically, the uterine rudiments (84.4%) were small and displayed only one-layer differentiation. • About 15.6% of rudiments showed atypical characteristics including two- or three-layer differentiation, even complicated with hematometra or hematosalpinx.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual/diagnóstico por imagem , Anormalidades Congênitas/diagnóstico por imagem , Imagem por Ressonância Magnética , Ductos Paramesonéfricos/anormalidades , Transtornos 46, XX do Desenvolvimento Sexual/patologia , Adolescente , Adulto , Criança , Anormalidades Congênitas/patologia , Feminino , Humanos , Ductos Paramesonéfricos/diagnóstico por imagem , Ductos Paramesonéfricos/patologia , Ovário/diagnóstico por imagem , Ovário/patologia , Pelve/diagnóstico por imagem , Estudos Retrospectivos , Anormalidades Urogenitais/diagnóstico por imagem , Anormalidades Urogenitais/patologia , Útero/anormalidades , Útero/diagnóstico por imagem , Útero/patologia , Vagina/anormalidades , Vagina/diagnóstico por imagem , Vagina/patologia , Adulto Jovem
14.
Radiol Clin North Am ; 58(2): 227-238, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32044004

RESUMO

Infertility, or subfertility, is the inability to achieve a clinical pregnancy after a 1-year period of regular unprotected sexual intercourse in women younger than 35 and after 6 months in women older than 35. Although initial assessment involves a multitude of factors, including a detailed medical history, physical examination, semen analysis, and hormonal evaluation, diagnostic imaging of the female partner often plays an important role in establishing the etiology for infertility. This article provides an overview of the multimodality imaging assessment of female infertility and details the developmental and acquired pelvic abnormalities in which diagnostic imaging aids in evaluation.


Assuntos
Histerossalpingografia/métodos , Infertilidade Feminina/diagnóstico por imagem , Imagem por Ressonância Magnética/métodos , Ductos Paramesonéfricos/anormalidades , Ultrassonografia/métodos , Útero/anormalidades , Feminino , Humanos , Ductos Paramesonéfricos/diagnóstico por imagem , Útero/diagnóstico por imagem
15.
Am J Obstet Gynecol ; 222(6): 584.e1-584.e5, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-31981513

RESUMO

While uterus transplantation was once considered only a theoretical possibility for patients with uterine factor infertility, researchers have now developed methods of transplantation that have led to successful pregnancies with multiple children born to date. Because of the unique and significant nature of this type of research, it has been undertaken with collaboration not only with scientists and physicians but also with bioethicists, who paved the initial path for research of uterus transplantation to take place. As the science of uterus transplantation continues to advance, so too must the public dialogue among obstetrician/gynecologists, transplant surgeons, bioethicists, and other key stakeholders in defining the continued direction of research in addition to planning for the clinical implementation of uterus transplantation as a therapeutic option. Given the rapid advances in this field, the time has come to revisit the fundamental questions raised at the inception of uterus transplantation and, looking forward, determine the future of this approach given emerging data on the procedure's impact on individuals, families, and society.


Assuntos
Infertilidade Feminina/cirurgia , Transplante de Órgãos/ética , Útero/transplante , Transtornos 46, XX do Desenvolvimento Sexual/complicações , Atitude Frente a Saúde , Cesárea , Anormalidades Congênitas , Transferência Embrionária , Feminino , Rejeição de Enxerto/prevenção & controle , Acesso aos Serviços de Saúde , Humanos , Histerectomia , Imunossupressores/uso terapêutico , Infertilidade Feminina/etiologia , Infertilidade Feminina/psicologia , Cobertura do Seguro , Seguro Saúde , Ductos Paramesonéfricos/anormalidades , Transplante de Órgãos/economia , Transplante de Órgãos/legislação & jurisprudência , Transplante de Órgãos/psicologia , Preferência do Paciente , Aderências Teciduais/complicações , Obtenção de Tecidos e Órgãos , Doenças Uterinas/complicações
17.
J Minim Invasive Gynecol ; 27(1): 74-79, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31129299

RESUMO

STUDY OBJECTIVE: To evaluate the treatment of patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with a combination of oocyte retrieval and surgical vaginoplasty in a single laparoscopic procedure. DESIGN: A case series. SETTING: The study was conducted at 2 tertiary referral facilities for MRKH syndrome in Milan, Italy, between July 2017 and September 2018. PATIENTS: Eleven patients presented with MRKH and required surgical vaginoplasty while expressing a desire for future fertility. INTERVENTIONS: Two experienced surgeons and an expert in assisted reproductive technology performed concomitant vaginoplasty according to the modified technique of Davydov and laparoscopic oocyte retrieval for gamete cryopreservation. MEASUREMENTS AND MAIN RESULTS: Before the procedure, patients underwent extensive counseling and gave written consent. At the start of surgery, 10.4 ± 4.4 (mean ± standard deviation [SD]) oocytes were retrieved laparoscopically, and 8.8 ± 3.1 (SD) mean mature oocytes were cryopreserved. After oocyte retrieval, the steps of the modified Davydov technique were followed. The total operative time was 116 ± 16 minutes (mean ± SD), and no intraoperative/postoperative complications were observed. CONCLUSION: This is the first report of combined oocyte retrieval and vaginoplasty for patients with MRKH syndrome. The approach was found to be feasible in patients with a desire for future fertility. It is our belief that physicians treating patients with MRKH should refer patients to centers with expertise in both vaginoplasty and assisted reproductive technology.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual/terapia , Anormalidades Congênitas/terapia , Preservação da Fertilidade/métodos , Procedimentos Cirúrgicos em Ginecologia/métodos , Laparoscopia/métodos , Ductos Paramesonéfricos/anormalidades , Recuperação de Oócitos/métodos , Procedimentos Cirúrgicos Reconstrutivos/métodos , Vagina/cirurgia , Transtornos 46, XX do Desenvolvimento Sexual/cirurgia , Adolescente , Adulto , Terapia Combinada , Anormalidades Congênitas/cirurgia , Criopreservação , Estudos de Viabilidade , Feminino , Seguimentos , Humanos , Complicações Intraoperatórias/etiologia , Itália , Ductos Paramesonéfricos/cirurgia , Duração da Cirurgia , Indução da Ovulação/métodos , Complicações Pós-Operatórias/etiologia , Adulto Jovem
18.
J Minim Invasive Gynecol ; 27(1): 206-211, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31228594

RESUMO

Our objective was to provide a minimally invasive neovaginoplasty technique to construct a nearly physiologic vagina to facilitate sexual functioning and appropriate vaginal length in patients with congenital vaginal agenesis. This retrospective study at a tertiary care hospital comprised 52 patients with congenital vaginal agenesis because of Mayer-Rokitansky-Küster-Hauser syndrome or androgen insensitivity syndrome presented for vaginal reconstruction. Modified McIndoe vaginoplasty was done in all patients between 2010 and 2018 using a vaginal mold created with glove, nonadherent petroleum gauze, and Interceed absorbable adhesion barrier (Ethicon, Johnson & Johnson, Somerville, NJ) that was placed in the neovagina space created between the bladder and rectum for 7 days. Operative details, complications, length and width of the neovagina, and functional outcome were evaluated. The mean operation time was 35 minutes. The mean length of the constructed neovagina was 8.4 cm × 3.4 cm at 6 weeks follow-up. Epithelialization was completed by 4 to 6 months. All patients reported satisfactory sexual activity with no pain and good mucosal sensitivity. This modified neovaginoplasty technique is easy to perform, involves painless postoperative dilatations as the cornerstone of treatment, and results in adequate secretion, allowing lubrication and acceptable physiologic results.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual/cirurgia , Implantes Absorvíveis , Celulose Oxidada/uso terapêutico , Anormalidades Congênitas/cirurgia , Ductos Paramesonéfricos/anormalidades , Procedimentos Cirúrgicos Reconstrutivos/métodos , Vagina/anormalidades , Vagina/cirurgia , Transtornos 46, XX do Desenvolvimento Sexual/complicações , Adolescente , Adulto , Assistência ao Convalescente , Dilatação/instrumentação , Dilatação/métodos , Feminino , Humanos , Procedimentos Cirúrgicos Minimamente Invasivos/instrumentação , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Membrana Mucosa/cirurgia , Ductos Paramesonéfricos/cirurgia , Procedimentos Cirúrgicos Reconstrutivos/instrumentação , Estudos Retrospectivos , Aderências Teciduais/prevenção & controle , Resultado do Tratamento , Adulto Jovem
19.
Arch Gynecol Obstet ; 300(6): 1633-1636, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31667605

RESUMO

OBJECTIVE: To compare using the acellular porcine small intestinal submucosa (SIS) graft or the Interceed in patients with MRKH syndrome undergoing creation of a neovagina. METHODS: In this retrospective study, patients with MRKH syndrome undergoing creation of a neovagina from 2016 to 2018 were retrospectively investigated. Wharton-Sheares-George neovaginoplasty was performed using the acellular porcine SIS graft or the Interceed. RESULTS: Overall, 67 patients were included for analysis. The operating time, the estimated blood loss and return of bowel activity were similar between the two groups. However, the total cost in the SIS group was significantly higher than that in the Interceed group due to the cost of the SIS graft. The mean length and width of the neovagina were similar between the two groups. However, the incidence of granulation in vaginal apex was higher in the SIS graft group than that in the Interceed group. There was no statistically significant difference in the total FSFI scores between the two groups who became sexually active postoperatively. CONCLUSIONS: Our results demonstrated that Wharton-Sheares-George method provided the patients to have satisfactory sexual intercourse. The Interceed played a role in the reconstruction of neovagina no less than the SIS graft.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual/cirurgia , Anormalidades Congênitas/cirurgia , Mucosa Intestinal/transplante , Ductos Paramesonéfricos/anormalidades , Procedimentos Cirúrgicos Reconstrutivos/métodos , Vagina/cirurgia , Adulto , Animais , Feminino , Humanos , Ductos Paramesonéfricos/cirurgia , Estudos Retrospectivos , Estruturas Criadas Cirurgicamente , Suínos
20.
Semin Pediatr Surg ; 28(5): 150842, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31668297

RESUMO

Caring for patients with congenital pelvic anomalies can be challenging in many ways but one crucial aspect is providing longitudinal into adulthood. Newborns with urinary, intestinal or vaginal obstruction require urgent operations to relieve obstruction followed by multiple reconstructive procedures involving the perineum. Openings are created in the pelvic floor musculature that did not exist in development. Adolescence presents further challenges for these postoperative patients while other diagnoses present for the first time in the peri-pubertal teenage years. Young adults can have new symptoms when they become sexually active and are faced with reproductive decisions. During all of these time periods, optimization of function is of paramount importance and patients who are suffering are not able to participate in school, sports or work. This study evaluates the prevalence of pelvic pain in newborns and adolescents with complex congenital pelvic anomalies, associated factors and possible treatment options.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual/epidemiologia , Cloaca/anormalidades , Anormalidades Congênitas/epidemiologia , Rim/anormalidades , Ductos Paramesonéfricos/anormalidades , Dor Pélvica/etiologia , Vagina/anormalidades , Adolescente , Arizona/epidemiologia , Dor Crônica/epidemiologia , Dor Crônica/etiologia , Depressão/etiologia , Feminino , Humanos , Dor Pélvica/epidemiologia , Estudos Retrospectivos , Adulto Jovem
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