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[PMID]:29266078
[Au] Autor:Committee on Adolescent Health Care
[Ti] Título:ACOG Committee Opinion No. 728: Müllerian Agenesis: Diagnosis, Management, And Treatment.
[So] Source:Obstet Gynecol;131(1):e35-e42, 2018 01.
[Is] ISSN:1873-233X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Müllerian agenesis, also referred to as müllerian aplasia, Mayer-Rokitansky-Küster-Hauser syndrome, or vaginal agenesis, has an incidence of 1 per 4,500-5,000 females. Müllerian agenesis is caused by embryologic underdevelopment of the müllerian duct, with resultant agenesis or atresia of the vagina, uterus, or both. Patients with müllerian agenesis usually are identified when they are evaluated for primary amenorrhea with otherwise typical growth and pubertal development. The most important steps in the effective management of müllerian agenesis are correct diagnosis of the underlying condition, evaluation for associated congenital anomalies, and psychosocial counseling in addition to treatment or intervention to address the functional effects of genital anomalies. The psychologic effect of the diagnosis of müllerian agenesis should not be underestimated. All patients with müllerian agenesis should be offered counseling and encouraged to connect with peer support groups. Future options for having children should be addressed with patients: options include adoption and gestational surrogacy. Assisted reproductive techniques with use of a gestational carrier (surrogate) have been shown to be successful for women with müllerian agenesis. Nonsurgical vaginal elongation by dilation should be the first-line approach. When well-counseled and emotionally prepared, almost all patients (90-96%) will be able to achieve anatomic and functional success by primary vaginal dilation. In cases in which surgical intervention is required, referrals to centers with expertise in this area should be considered because few surgeons have extensive experience in construction of the neovagina and surgery by a trained surgeon offers the best opportunity for a successful result.
[Mh] Termos MeSH primário: Transtornos 46, XX do Desenvolvimento Sexual/diagnóstico
Transtornos 46, XX do Desenvolvimento Sexual/cirurgia
Anormalidades Congênitas/diagnóstico
Anormalidades Congênitas/cirurgia
Ductos Paramesonéfricos/anormalidades
Guias de Prática Clínica como Assunto
Procedimentos Cirúrgicos Reconstrutivos/métodos
[Mh] Termos MeSH secundário: Transtornos 46, XX do Desenvolvimento Sexual/psicologia
Comitês Consultivos
Anormalidades Congênitas/psicologia
Feminino
Procedimentos Cirúrgicos em Ginecologia/métodos
Seres Humanos
Recém-Nascido
Ductos Paramesonéfricos/cirurgia
Qualidade de Vida
Medição de Risco
Resultado do Tratamento
Estados Unidos
Anormalidades Urogenitais/diagnóstico
Anormalidades Urogenitais/cirurgia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180116
[Lr] Data última revisão:
180116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171222
[St] Status:MEDLINE
[do] DOI:10.1097/AOG.0000000000002458


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[PMID]:29266072
[Ti] Título:ACOG Committee Opinion No. 728 Summary: Müllerian Agenesis: Diagnosis, Management, And Treatment.
[So] Source:Obstet Gynecol;131(1):196-197, 2018 Jan.
[Is] ISSN:1873-233X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Müllerian agenesis, also referred to as müllerian aplasia, Mayer-Rokitansky-Küster-Hauser syndrome, or vaginal agenesis, has an incidence of 1 per 4,500-5,000 females. Müllerian agenesis is cau0073ed by embryologic underdevelopment of the müllerian duct, with resultant agenesis or atresia of the vagina, uterus, or both. Patients with müllerian agenesis usually are identified when they are evaluated for primary amenorrhea with otherwise typical growth and pubertal development. The most important steps in the effective management of müllerian agenesis are correct diagnosis of the underlying condition, evaluation for associated congenital anomalies, and psychosocial counseling in addition to treatment or intervention to address the functional effects of genital anomalies. The psychologic effect of the diagnosis of müllerian agenesis should not be underestimated. All patients with müllerian agenesis should be offered counseling and encouraged to connect with peer support groups. Future options for having children should be addressed with patients: options include adoption and gestational surrogacy. Assisted reproductive techniques with use of a gestational carrier (surrogate) have been shown to be successful for women with müllerian agenesis. Nonsurgical vaginal elongation by dilation should be the first-line approach. When well-counseled and emotionally prepared, almost all patients (90-96%) will be able to achieve anatomic and functional success by primary vaginal dilation. In cases in which surgical intervention is required, referrals to centers with expertise in this area should be considered because few surgeons have extensive experience in construction of the neovagina and surgery by a trained surgeon offers the best opportunity for a successful result.
[Mh] Termos MeSH primário: Transtornos 46, XX do Desenvolvimento Sexual/diagnóstico
Transtornos 46, XX do Desenvolvimento Sexual/cirurgia
Anormalidades Congênitas/diagnóstico
Anormalidades Congênitas/cirurgia
Ductos Paramesonéfricos/anormalidades
Guias de Prática Clínica como Assunto
Procedimentos Cirúrgicos Reconstrutivos/métodos
[Mh] Termos MeSH secundário: Comitês Consultivos
Feminino
Seres Humanos
Ductos Paramesonéfricos/cirurgia
Gravidez
Qualidade de Vida
Resultado do Tratamento
Estados Unidos
Anormalidades Urogenitais/diagnóstico
Anormalidades Urogenitais/terapia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180108
[Lr] Data última revisão:
180108
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171222
[St] Status:MEDLINE
[do] DOI:10.1097/AOG.0000000000002452


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[PMID]:28815558
[Au] Autor:Brucker SY; Frank L; Eisenbeis S; Henes M; Wallwiener D; Riess O; van Eijck B; Schöller D; Bonin M; Rall KK
[Ad] Endereço:Department of Women's Health, Center for Rare Female Genital Malformations, Women's University Hospital, Tübingen University Hospital, Tübingen, Germany.
[Ti] Título:Sequence variants in ESR1 and OXTR are associated with Mayer-Rokitansky-Küster-Hauser syndrome.
[So] Source:Acta Obstet Gynecol Scand;96(11):1338-1346, 2017 Nov.
[Is] ISSN:1600-0412
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is characterized by congenital absence of the uterus and the upper two-thirds of the vagina in otherwise phenotypically normal females. It is found isolated or associated with renal, skeletal and other malformations. Despite ongoing research, the etiology is mainly unknown. For a long time, the hypothesis of deficient hormone receptors as the cause for MRKHS has existed, supported by previous findings of our group. The aim of the present study was to identify unknown genetic causes for MRKHS and to compare them with data banks including a review of the literature. MATERIAL AND METHODS: DNA sequence analysis of the oxytocin receptor (OXTR) and estrogen receptor-1 gene (ESR1) was performed in a group of 93 clinically well-defined patients with uterovaginal aplasia (68 with the isolated form and 25 with associated malformations). RESULTS: In total, we detected three OXTR variants in 18 MRKHS patients with one leading to a missense mutation, and six ESR1 variants in 21 MRKHS patients, two of these causing amino acid changes and therefore potentially disease. CONCLUSIONS: The identified variants on DNA level might impair receptor function through different molecular mechanisms. Mutations of ESR1 and OXTR are associated with MRKHS. Thus, we consider these genes potential candidates associated with the manifestation of MRKHS.
[Mh] Termos MeSH primário: Transtornos 46, XX do Desenvolvimento Sexual/genética
Anormalidades Congênitas/genética
Receptor alfa de Estrogênio/genética
Ductos Paramesonéfricos/anormalidades
Receptores de Ocitocina/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Feminino
Variação Genética
Seres Humanos
Meia-Idade
Mutação de Sentido Incorreto
Análise de Sequência de DNA
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Estrogen Receptor alpha); 0 (Receptors, Oxytocin); 0 (estrogen receptor alpha, human)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171023
[Lr] Data última revisão:
171023
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170818
[St] Status:MEDLINE
[do] DOI:10.1111/aogs.13202


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[PMID]:28778283
[Au] Autor:Wei L; Xue T; Tao KS; Zhang G; Zhao GY; Yu SQ; Cheng L; Yang ZX; Zheng MJ; Li F; Wang Q; Han Y; Shi YQ; Dong HL; Lu ZH; Wang Y; Yang H; Ma XD; Liu SJ; Liu HX; Xiong LZ; Chen BL
[Ad] Endereço:Department of Obstetrics and Gynecology, Xijing Hospital, The Fourth Military Medical University, Xi'an, People's Republic of China.
[Ti] Título:Modified human uterus transplantation using ovarian veins for venous drainage: the first report of surgically successful robotic-assisted uterus procurement and follow-up for 12 months.
[So] Source:Fertil Steril;108(2):346-356.e1, 2017 Aug.
[Is] ISSN:1556-5653
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To report the 12-month results of the first human uterus transplantation case using robot-assisted uterine retrieval. This type of transplantation may become a treatment for permanent uterine factor infertility. DESIGN: Case study. SETTING: University hospital. PATIENT(S): A 22-year-old woman with complete müllerian agenesis who underwent a previous surgery for vaginal reconstruction. The live uterine donor was her mother. INTERVENTION(S): The uterus transplantation procedure consisted of robot-assisted uterine procurement, orthotopic replacement and fixation of the retrieved uterus, revascularization, and end-to-side anastomoses of bilateral hypogastric arteries and ovarian-uterine vein to the bilateral external iliac arteries and veins. MAIN OUTCOME MEASURE(S): Data from preoperative investigations, surgery, and follow-up (12 months). RESULT(S): The duration of the donor and recipient surgeries were 6 and 8 hours, 50 minutes, respectively. No immediate perioperative complications occurred in the recipient or donor. The recipient experienced menarche 40 days after transplant surgery, and she has had 12 menstrual cycles since the surgery. No rejection episodes occurred in the recipient. CONCLUSION(S): These results demonstrate the feasibility of live-donor uterine transplantation with a low-dose immunosuppressive protocol and the role of DaVinci robotic assistance during human uterine procurement. CLINICAL TRIAL REGISTRATION NUMBER: XJZT12Z06.
[Mh] Termos MeSH primário: Transtornos 46, XX do Desenvolvimento Sexual/cirurgia
Anormalidades Congênitas/cirurgia
Histerectomia/métodos
Ductos Paramesonéfricos/anormalidades
Ovário/irrigação sanguínea
Procedimentos Cirúrgicos Robóticos/métodos
Útero/transplante
Veias/transplante
[Mh] Termos MeSH secundário: Feminino
Seres Humanos
Ductos Paramesonéfricos/cirurgia
Ovário/transplante
Procedimentos Cirúrgicos Reconstrutivos/métodos
Resultado do Tratamento
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170825
[Lr] Data última revisão:
170825
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170806
[St] Status:MEDLINE


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[PMID]:28624115
[Au] Autor:Vatsa R; Bharti J; Roy KK; Kumar S; Sharma JB; Singh N; Singhal S; Meena J
[Ad] Endereço:Department of Obstetrics and Gynaecology, All India Institute of Medical Sciences, New Delhi, India.
[Ti] Título:Evaluation of amnion in creation of neovagina in women with Mayer-Rokitansky-Kuster-Hauser syndrome.
[So] Source:Fertil Steril;108(2):341-345, 2017 Aug.
[Is] ISSN:1556-5653
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To assess the outcome of amnion vaginoplasty in cases of vaginal agenesis due to Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome managed at the authors' institution. DESIGN: Retrospective study. SETTING: Tertiary care hospital. PATIENT(S): Fifty women with MRKH who underwent neovaginoplasty. INTERVENTION(S): Modified McIndoe's vaginoplasty was done in all the patients, using human amnion graft. MAIN OUTCOME MEASURE(S): Functional status assessed by Female Sexual Function Index, anatomic status (length and width of neovagina), and epithelialization of vagina. RESULT(S): Mean (±SD) vaginal length after surgery was 8.2 ± 1 cm. Mean vaginal length at 6-month follow-up in sexually active patients was significantly longer as compared with the patients who were not sexually active after surgery (8.4 ± 1.04 cm vs. 6.6 ± 2.4 cm). Mean Female Sexual Function Index score was 30.8 ± 2.1. Vaginal biopsy showed complete epithelialization of vaginal mucosa. CONCLUSION(S): In a developing nation like India, McIndoe's method with amnion graft seems to be a promising option owing to its low cost, easy availability, and safety, ease of the procedure not requiring any special instrument, physiologic outcome with respect to epithelialization of the vagina without hair growth, and satisfying functional outcome.
[Mh] Termos MeSH primário: Transtornos 46, XX do Desenvolvimento Sexual/cirurgia
Âmnio/patologia
Âmnio/transplante
Colpotomia/métodos
Anormalidades Congênitas/cirurgia
Ductos Paramesonéfricos/anormalidades
Estruturas Criadas Cirurgicamente/patologia
Vagina/cirurgia
[Mh] Termos MeSH secundário: Transtornos 46, XX do Desenvolvimento Sexual/diagnóstico
Transtornos 46, XX do Desenvolvimento Sexual/patologia
Adolescente
Adulto
Anormalidades Congênitas/diagnóstico
Anormalidades Congênitas/patologia
Feminino
Seres Humanos
Ductos Paramesonéfricos/patologia
Ductos Paramesonéfricos/cirurgia
Procedimentos Cirúrgicos Reconstrutivos/métodos
Estudos Retrospectivos
Resultado do Tratamento
Vagina/anormalidades
Vagina/patologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170825
[Lr] Data última revisão:
170825
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170619
[St] Status:MEDLINE


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[PMID]:28600106
[Au] Autor:Williams LS; Demir Eksi D; Shen Y; Lossie AC; Chorich LP; Sullivan ME; Phillips JA; Erman M; Kim HG; Alper OM; Layman LC
[Ad] Endereço:Section of Reproductive Endocrinology, Infertility, and Genetics, Department of Obstetrics and Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia.
[Ti] Título:Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families.
[So] Source:Fertil Steril;108(1):145-151.e2, 2017 Jul.
[Is] ISSN:1556-5653
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To study the genetic cause of Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH). Although a few candidate genes and genomic domains for have been reported for MRKH, the genetic underpinnings remain largely unknown. Some of the top candidate genes are WNT4, HNF1B, and LHX1. The goals of this study were to: 1) determine the prevalence of WNT4, HNF1B, and LHX1 point mutations, as well as new copy number variants (CNVs) in people with MRKH; and 2) identify and characterize MRKH cohorts. DESIGN: Laboratory- and community-based study. SETTING: Academic medical centers. PATIENT(S): A total of 147 MRKH probands and available family members. INTERVENTIONS(S): DNA sequencing of WNT4, HNF1B, and LHX1 in 100 MRKH patients, chromosomal microarray analysis in 31 North American MRKH patients, and characterization and sample collection of 147 North American and Turkish MRKH probands and their families. MAIN OUTCOME MEASURE(S): DNA sequence variants and CNVs; pedigree structural analysis. RESULT(S): We report finding CNVs in 6/31 people (∼19%) with MRKH, but no point mutations or small indels in WNT4, HNF1B, or LHX1 in 100 MRKH patients. Our MRKH families included 43 quads, 26 trios, and 30 duos. Of our MRKH probands, 87/147 (59%) had MRKH type 1 and 60/147 (41%) had type 2 with additional anomalies. CONCLUSION(S): Although the prevalence of WNT4, HNF1B, and LHX1 point mutations is low in people with MRKH, the prevalence of CNVs was ∼19%. Further analysis of our large familial cohort of patients will facilitate gene discovery to better understand the complex etiology of MRKH.
[Mh] Termos MeSH primário: Transtornos 46, XX do Desenvolvimento Sexual/epidemiologia
Transtornos 46, XX do Desenvolvimento Sexual/genética
Anormalidades Congênitas/epidemiologia
Anormalidades Congênitas/genética
Fator 1-beta Nuclear de Hepatócito/genética
Proteínas com Homeodomínio LIM/genética
Ductos Paramesonéfricos/anormalidades
Polimorfismo de Nucleotídeo Único/genética
Fatores de Transcrição/genética
Proteína Wnt4/genética
[Mh] Termos MeSH secundário: Adulto
Estudos de Coortes
Família
Marcadores Genéticos/genética
Predisposição Genética para Doença/epidemiologia
Predisposição Genética para Doença/genética
Seres Humanos
Internacionalidade
Prevalência
Fatores de Risco
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY
[Nm] Nome de substância:
0 (Genetic Markers); 0 (HNF1B protein, human); 0 (LHX1 protein, human); 0 (LIM-Homeodomain Proteins); 0 (Transcription Factors); 0 (WNT4 protein, human); 0 (Wnt4 Protein); 138674-15-4 (Hepatocyte Nuclear Factor 1-beta)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170818
[Lr] Data última revisão:
170818
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170611
[St] Status:MEDLINE


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[PMID]:28434104
[Au] Autor:Choussein S; Nasioudis D; Schizas D; Economopoulos KP
[Ad] Endereço:Surgery Working Group, Society of Junior Doctors, Athens, Greece. schoussein@partners.org.
[Ti] Título:Mullerian dysgenesis: a critical review of the literature.
[So] Source:Arch Gynecol Obstet;295(6):1369-1381, 2017 Jun.
[Is] ISSN:1432-0711
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:PURPOSE: To present an update of the genetic, clinical, diagnostic, and therapeutic aspects of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. METHODS: Studies were considered eligible if they have evaluated patients with MRKH syndrome. Eligible articles were identified by a search of MEDLINE bibliographical database from 1950 to August 2016. A purely descriptive approach was adopted concerning all outcomes examined by the individual studies. RESULTS: MRKH syndrome is defined as congenital aplasia of the upper vagina and impairment of uterine development in normal 46XX females. Accounting for 1:4500 women, MRKH is the second most common cause of primary amenorrhea following gonadal dysgenesis. Potential association of MRKH syndrome to specific genes has been the focus of recent research. Null-association results of HOXA genes and Wnt5a, Wnt7a, and Wnt9a have been reported, while point mutations of the WNT4 gene point mutations have been associated with an MRKH-like syndrome characterized by Mullerian duct regression and hyperandrogenism. Ultrasound and Magnetic Resonance Imaging (MRI) are the main techniques to establish an accurate diagnosis of the syndrome. Several non-surgical and surgical procedures have been reported for the creation of a functional neovagina; in general, non-surgical treatment should be the first initially pursued. Along with psychological support, recent developments in assisted reproductive technologies of IVF techniques and the availability of gestational surrogacy, as well as the recent breakthrough of successful uterus transplantation, enable women with MRKH syndrome to attain their own genetic child. CONCLUSION(S): MRKH syndrome is a medical modality with important social, legal, and ethical projections that require a multi-disciplinary approach.
[Mh] Termos MeSH primário: Transtornos 46, XX do Desenvolvimento Sexual/genética
Anormalidades Múltiplas/patologia
Ductos Paramesonéfricos/anormalidades
[Mh] Termos MeSH secundário: Transtornos 46, XX do Desenvolvimento Sexual/patologia
Transtornos 46, XX do Desenvolvimento Sexual/psicologia
Transtornos 46, XX do Desenvolvimento Sexual/cirurgia
Anormalidades Múltiplas/genética
Anormalidades Múltiplas/psicologia
Anormalidades Múltiplas/cirurgia
Adulto
Feminino
Seres Humanos
Hiperandrogenismo/complicações
Ductos Paramesonéfricos/patologia
Ductos Paramesonéfricos/cirurgia
Maturidade Sexual
Síndrome
Útero/anormalidades
Útero/transplante
Vagina/anormalidades
Vagina/cirurgia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171103
[Lr] Data última revisão:
171103
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170424
[St] Status:MEDLINE
[do] DOI:10.1007/s00404-017-4372-2


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[PMID]:28426677
[Au] Autor:Simoes E; Sokolov AN; Kronenthaler A; Hiltner H; Schaeffeler N; Rall K; Ueding E; Rieger MA; Wagner A; Poesch LS; Baur MC; Kittel J; Brucker SY
[Ad] Endereço:Women's Health Research Institute, Department of Women's Health, University Hospital Tübingen, Tübingen, Germany.
[Ti] Título:Information ranks highest: Expectations of female adolescents with a rare genital malformation towards health care services.
[So] Source:PLoS One;12(4):e0174031, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Access to highly specialized health care services and support to meet the patient's specific needs is critical for health outcome, especially during age-related transitions within the health care system such as with adolescents entering adult medicine. Being affected by an orphan disease complicates the situation in several important respects. Long distances to dedicated institutions and scarcity of knowledge, even among medical doctors, may present major obstacles for proper access to health care services and health chances. This study is part of the BMBF funded TransCareO project examining in a mixed-method design health care provisional deficits, preferences, and barriers in health care access as perceived by female adolescents affected by the Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), a rare (orphan) genital malformation. METHODS: Prior to a communicative validation workshop, critical elements of MRKHS related care and support (items) were identified in interviews with MRKHS patients. During the subsequent workshop, 87 persons involved in health care and support for MRKHS were asked to rate the items using a 7-point Likert scale (7, strongly agree; 1, strongly disagree) as to 1) the elements' potential importance (i.e., health care expected to be "best practice", or priority) and 2) the presently experienced care. A gap score between the two was computed highlighting fields of action. Items were arranged into ten separate questionnaires representing domains of care and support (e.g., online-portal, patient participation). Within each domain, several items addressed various aspects of "information" and "access". Here, we present the outcome of items' evaluation by patients (attended, NPAT = 35; respondents, NRESP = 19). RESULTS: Highest priority scores occurred for domains "Online-Portal", "Patient participation", and "Tailored informational offers", characterizing them as extremely important for the perception as best practice. Highest gap scores yielded domains "Tailored informational offers", reflecting perceived lack of disease-related information for affected persons, medical experts, and health insurance companies, "Online-Portal" (with limited information available on specialist clinics and specialized doctors), and regarding insufficient support offers (e.g., in school and occupational settings). Conversely, lowest gap scores were found with group offers for MRKHS patients ("Transition programs") and MRKHS self-help days ("Patient participation"), suggesting satisfaction or good solutions in place. DISCUSSION: The importance assigned to disease-related information indicates that informational deficits are perceived by patients as barriers, hindering proper access to health care, especially in an orphan disease. Access to health-related information plays a role for all persons seeking help and care. However, the overwhelmingly high scores attributed to these elements in the context of an orphan disease reveal that here improved information policies are crucial, demanding for institutionalized solutions supported by the health care system. IMPLICATIONS FOR PRACTICE: The disparity between experience of care and attribution as best practice detected describes areas of action in all domains involved, highlighting information related fields. New concepts and structures for health care in orphan diseases could draw upon these patient-oriented results a) regarding orphan-disease specific elements demanding institutionalized reimbursement, b) essential elements for center care and corresponding networks, and c) elements reflecting patients´ participation in the conception of centers for rare diseases.
[Mh] Termos MeSH primário: Transtornos 46, XX do Desenvolvimento Sexual/terapia
Anormalidades Congênitas/terapia
Genitália Feminina/anormalidades
Acesso aos Serviços de Saúde
Ductos Paramesonéfricos/anormalidades
[Mh] Termos MeSH secundário: Transtornos 46, XX do Desenvolvimento Sexual/psicologia
Adolescente
Anormalidades Congênitas/psicologia
Feminino
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170907
[Lr] Data última revisão:
170907
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170421
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0174031


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[PMID]:28245469
[Au] Autor:Brucker SY; Eisenbeis S; König J; Lamy M; Salker MS; Zeng N; Seeger H; Henes M; Schöller D; Schönfisch B; Staebler A; Taran FA; Wallwiener D; Rall K
[Ti] Título:Decidualization is Impaired in Endometrial Stromal Cells from Uterine Rudiments in Mayer-Rokitansky-Küster-Hauser Syndrome.
[So] Source:Cell Physiol Biochem;41(3):1083-1097, 2017.
[Is] ISSN:1421-9778
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:BACKGROUND/AIMS: Uterine rudiments from patients with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) contain all tissues typically found in the uterus. Endometrium from the rudiments predominantly exhibits basalis-like features, and endometrial proliferative capacity in patients' epithelium and stroma is significantly lower. METHODS: This single-center, prospective study conducted at a major German university hospital compared in-vitro decidualization in cultured ESCs from MRKHS patients and hysterectomy controls. Primary ESC cultures were established from both sources. Hormone-induced prolactin and IGFBP-1 secretion served as a measure of their ability to undergo decidualization in response to hormonal stimulation. Expression levels of 8 key marker genes of decidualization were also determined. RESULTS: At day 9, mean secretion of prolactin and IGFBP-1 was significantly reduced by 89.0% and 99.5%, respectively, in MRKHS ESCs vs. hysterectomy controls, both indicating impaired decidualization of MRKHS ESCs. Key decidual markers confirmed impaired decidualization in MRKHS patients. CONCLUSION: Our results indicate that the ESCs from MRKHS patients lack hormone responsiveness as a potential sign of dysfunctional hormone receptor function, which may also play a role in the onset of MRKHS. Further studies are needed to corroborate our findings, directly address receptor function, and elucidate the role of other potential determinants of uterine development and adult function.
[Mh] Termos MeSH primário: Endométrio/anormalidades
Ductos Paramesonéfricos/anormalidades
Células Estromais/patologia
Vagina/anormalidades
[Mh] Termos MeSH secundário: Transtornos 46, XX do Desenvolvimento Sexual/metabolismo
Transtornos 46, XX do Desenvolvimento Sexual/cirurgia
Adolescente
Adulto
Anormalidades Congênitas/metabolismo
Anormalidades Congênitas/cirurgia
Endométrio/metabolismo
Endométrio/cirurgia
Estradiol/farmacologia
Feminino
Expressão Gênica/efeitos dos fármacos
Seres Humanos
Proteína 1 de Ligação a Fator de Crescimento Semelhante à Insulina/biossíntese
Proteína 1 de Ligação a Fator de Crescimento Semelhante à Insulina/genética
Ductos Paramesonéfricos/metabolismo
Ductos Paramesonéfricos/cirurgia
Cultura Primária de Células
Progesterona/farmacologia
Prolactina/biossíntese
Prolactina/genética
Estudos Prospectivos
Células Estromais/efeitos dos fármacos
Células Estromais/metabolismo
Vagina/metabolismo
Vagina/cirurgia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (IGFBP1 protein, human); 0 (Insulin-Like Growth Factor Binding Protein 1); 4G7DS2Q64Y (Progesterone); 4TI98Z838E (Estradiol); 9002-62-4 (Prolactin)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170626
[Lr] Data última revisão:
170626
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170301
[St] Status:MEDLINE
[do] DOI:10.1159/000464116


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[PMID]:28225307
[Au] Autor:Wu C; Fan S; Qian Y; Zhou Y; Jin J; Dai Z; Jiang L
[Ti] Título:17α-HYDROXYLASE/17, 20-LYASE DEFICIENCY: CLINICAL AND MOLECULAR CHARACTERIZATION OF EIGHT CHINESE PATIENTS.
[So] Source:Endocr Pract;23(5):576-582, 2017 May.
[Is] ISSN:1530-891X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: 17α-hydroxylase/17, 20-lyase deficiency (17OHD) is caused by mutations in the cytochrome P450 17A1 (CYP17A1) gene. To better understand 17OHD, a rare disease, we described the clinical features and performed CYP17A1 gene analysis in 8 affected Chinese patients. METHODS: Patients with complete (7/8) or partial (1/8) 17OHD were derived from 6 families. The diagnosis was established according to their clinical, biochemical, hormonal, and radiological characteristics. Long-term follow-up of some patients was also designed. RESULTS: Patients with 17OHD suffered from varying degrees of hypokalemia and hypertension. Symptoms in female patients with partial 17OHD manifested as secondary amenorrhea, recurrent ovarian cysts, elevated estradiol level, and lower follicle-stimulating hormone and luteinizing hormone levels; primary amenorrhea was typical in patients with complete 17OHD. Adrenal masses and decreased bone mineral density (BMD) were discovered in 2 patients, respectively. During long-term follow-up, 4 patients developed low BMD, while 3 individuals underwent respiratory infections and recurrent urinary tract infections. CYP17A1 gene analysis revealed 7 different kinds of mutation, including 1 novel mutation, L266V. CONCLUSION: The clinical characteristics of partial 17OHD were different from those of complete 17OHD. Low BMD and infections were common in patients with 17OHD on long-term steroid treatment. Seven mutations were identified in the CYP17A1 gene, and 1 was novel. ABBREVIATIONS: ACTH = adrenocorticotropic hormone BMD = bone mineral density CAH = congenital adrenal hyperplasia CT = computed tomography DEXA = dual-energy X-ray absorptiometry DEX = dexamethasone 17OHD = 17α-hydroxylase/17, 20-lyase deficiency.
[Mh] Termos MeSH primário: Hiperplasia Suprarrenal Congênita/diagnóstico
Hiperplasia Suprarrenal Congênita/genética
Esteroide 17-alfa-Hidroxilase/genética
[Mh] Termos MeSH secundário: Transtornos 46, XX do Desenvolvimento Sexual/genética
Transtornos 46, XX do Desenvolvimento Sexual/patologia
Adolescente
Hiperplasia Suprarrenal Congênita/patologia
Hormônio Adrenocorticotrópico/sangue
Adulto
Amenorreia/genética
Amenorreia/patologia
China
Análise Mutacional de DNA
Feminino
Hormônio Foliculoestimulante/sangue
Disgenesia Gonadal 46 XY/genética
Disgenesia Gonadal 46 XY/patologia
Seres Humanos
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
9002-60-2 (Adrenocorticotropic Hormone); 9002-68-0 (Follicle Stimulating Hormone); EC 1.14.14.19 (CYP17A1 protein, human); EC 1.14.14.19 (Steroid 17-alpha-Hydroxylase)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170713
[Lr] Data última revisão:
170713
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170223
[St] Status:MEDLINE
[do] DOI:10.4158/EP161610.OR



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