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<!--
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UID=330738
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ConceptID=C1841990
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Aplasia of the vagina</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>330738</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1841990</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Vagina aplasia</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003250">HP:0003250</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Aplasia of the vagina. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Aplasia of the vagina</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/155422" ref="tree=MeSH" title="MedGen record for Abnormality of the genital system">Abnormality of the genital system</a></span><ul><li><span class="TLline"><a href="/medgen/866746" ref="tree=MeSH" title="MedGen record for Abnormal reproductive system morphology">Abnormal reproductive system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869393" ref="tree=MeSH" title="MedGen record for Abnormality of the female genitalia">Abnormality of the female genitalia</a></span><ul><li><span class="TLline"><a href="/medgen/871402" ref="tree=MeSH" title="MedGen record for Abnormal morphology of female internal genitalia">Abnormal morphology of female internal genitalia</a></span><ul><li><span class="TLline"><a href="/medgen/343460" ref="tree=MeSH" title="MedGen record for Abnormal vagina morphology">Abnormal vagina morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869165" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the vagina">Aplasia/Hypoplasia of the vagina</a></span><ul><li><span class="matched_ds">Aplasia of the vagina</span><ul><li><span class="TLline"><a href="/medgen/609076" ref="tree=MeSH" title="MedGen record for Aplasia of the lower vagina">Aplasia of the lower vagina</a></span></li><li><span class="TLline"><a href="/medgen/868394" ref="tree=MeSH" title="MedGen record for Aplasia of the upper vagina">Aplasia of the upper vagina</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_374443"><div><strong>Hypoparathyroidism, deafness, renal disease syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374443</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1840333</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">HDR syndrome (HDRS), also known as Barakat syndrome, is a heterogeneous disorder characterized by the triad of Hypoparathyroidism (H), nerve Deafness (D) and/or Renal disease (R). Variable clinical features include hypogonadotrophic hypogonadism, polycystic ovaries, congenital heart disease, retinitis pigmentosa, and cognitive disability (Barakat et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374443">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376211"><div><strong>Waardenburg syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376211</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1847800</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Waardenburg syndrome type I (WS1) is an auditory-pigmentary disorder comprising congenital sensorineural hearing loss and pigmentary disturbances of the iris, hair, and skin along with dystopia canthorum (lateral displacement of the inner canthi). The hearing loss in WS1, observed in approximately 60% of affected individuals, is congenital, typically non-progressive, either unilateral or bilateral, and sensorineural. Most commonly, hearing loss in WS1 is bilateral and profound (>100 dB). The majority of individuals with WS1 have either a white forelock or early graying of the scalp hair before age 30 years. The classic white forelock observed in approximately 45% of individuals is the most common hair pigmentation anomaly seen in WS1. Affected individuals may have complete heterochromia iridium, partial/segmental heterochromia, or hypoplastic or brilliant blue irides. Congenital leukoderma is frequently seen on the face, trunk, or limbs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376211">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341373"><div><strong>Spondylocostal dysostosis-anal and genitourinary malformations syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341373</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1849069</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterized by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341373">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_390686"><div><strong>Mullerian aplasia and hyperandrogenism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>390686</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2675014</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Müllerian aplasia and hyperandrogenism is a condition that affects the reproductive system in females. This condition is caused by abnormal development of the Müllerian ducts, which are structures in the embryo that develop into the uterus, fallopian tubes, cervix, and the upper part of the vagina. Individuals with Müllerian aplasia and hyperandrogenism typically have an underdeveloped or absent uterus and may also have abnormalities of other reproductive organs. Women with this condition have normal female external genitalia, and they develop breasts and pubic hair normally at puberty; however, they do not begin menstruation by age 16 (primary amenorrhea) and will likely never have a menstrual period. Affected women are unable to have children (infertile).\n\nWomen with Müllerian aplasia and hyperandrogenism have higher-than-normal levels of male sex hormones called androgens in their blood (hyperandrogenism), which can cause acne and excessive facial hair (facial hirsutism). Kidney abnormalities may be present in some affected individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/390686">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482768"><div><strong>Chromosome 17q12 deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482768</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3281138</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">17q12 recurrent deletion syndrome is characterized by variable combinations of the three following findings: structural or functional abnormalities of the kidney and urinary tract, maturity-onset diabetes of the young type 5 (MODY5), and neurodevelopmental or neuropsychiatric disorders (e.g., developmental delay, intellectual disability, autism spectrum disorder [ASD], attention-deficit/hyperactivity disorder [ADHD], schizophrenia, anxiety, and bipolar disorder). Using a method of data analysis that avoids ascertainment bias, the authors determined that multicystic kidneys and other structural and functional kidney anomalies occur in 85%-90% of affected individuals, MODY5 in approximately 40%, and some degree of developmental delay or learning disability in approximately 50%. MODY5 is most often diagnosed before age 25 years (range: age 10-50 years).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482768">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1797978"><div><strong>Mayer Rokitansky Kuster Hauser syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1797978</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5566555</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterized by uterovaginal atresia in an otherwise phenotypically normal female with a normal 46,XX karyotype. Anomalies of the genital tract range from upper vaginal atresia to total mullerian agenesis with urinary tract abnormalities. It has an incidence of approximately 1 in 5,000 newborn girls (Cheroki et al., 2006). The abnormality of sexual development in MRKH syndrome is the same as that in the MURCS association (601076), in which cervicothoracic somite anomalies, unilateral renal agenesis, and conductive deafness are also seen. Mullerian aplasia and hyperandrogenism (158330) is caused by mutation in the WNT4 gene (603490). Familial cases of unilateral or bilateral renal agenesis in combination with mullerian anomalies have also been reported (see urogenital adysplasia, 191830).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1797978">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482768" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 17q12 deletion syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374443" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoparathyroidism, deafness, renal disease syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1797978" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mayer Rokitansky Kuster Hauser syndrome type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_390686" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mullerian aplasia and hyperandrogenism</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondylocostal dysostosis-anal and genitourinary malformations syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376211" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Waardenburg syndrome type 1</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36580934">The Use of Three-dimensional Printer Molds for Treatment of Vaginal Agenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takano CC,
|
||
Sartori MGF</span><br />
|
||
<span class="medgenPMjournal">Rev Bras Ginecol Obstet</span>
|
||
2022 Dec;44(12):1081-1082.
|
||
Epub 2022 Dec 29
|
||
doi: 10.1055/s-0042-1760208.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36580934" target="_blank">36580934</a><a href="/pmc/articles/PMC9800144" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32127135">Diagnosis and treatment of müllerian malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Passos IMPE,
|
||
Britto RL</span><br />
|
||
<span class="medgenPMjournal">Taiwan J Obstet Gynecol</span>
|
||
2020 Mar;59(2):183-188.
|
||
doi: 10.1016/j.tjog.2020.01.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32127135" target="_blank">32127135</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29177625">Hydrometrocolpos etiology and management: past beckons the present.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khanna K,
|
||
Sharma S,
|
||
Gupta DK</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2018 Mar;34(3):249-261.
|
||
Epub 2017 Nov 24
|
||
doi: 10.1007/s00383-017-4218-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29177625" target="_blank">29177625</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(aplasia%20of%20the%20vagina)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (122)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37989138">Müllerian Anomalies: Presentation, Diagnosis, and Counseling.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bortoletto P,
|
||
Romanski PA,
|
||
Pfeifer SM</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol</span>
|
||
2024 Mar 1;143(3):369-377.
|
||
Epub 2023 Nov 22
|
||
doi: 10.1097/AOG.0000000000005469.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37989138" target="_blank">37989138</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36562950">Update on Mayer-Rokitansky-Küster-Hauser syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen N,
|
||
Song S,
|
||
Bao X,
|
||
Zhu L</span><br />
|
||
<span class="medgenPMjournal">Front Med</span>
|
||
2022 Dec;16(6):859-872.
|
||
Epub 2022 Dec 23
|
||
doi: 10.1007/s11684-022-0969-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36562950" target="_blank">36562950</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25438707">Non-obstructive müllerian anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dietrich JE,
|
||
Millar DM,
|
||
Quint EH</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Adolesc Gynecol</span>
|
||
2014 Dec;27(6):386-95.
|
||
Epub 2014 Jul 17
|
||
doi: 10.1016/j.jpag.2014.07.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25438707" target="_blank">25438707</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11385087">Surgery for intersex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Creighton S</span><br />
|
||
<span class="medgenPMjournal">J R Soc Med</span>
|
||
2001 May;94(5):218-20.
|
||
doi: 10.1177/014107680109400505.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11385087" target="_blank">11385087</a><a href="/pmc/articles/PMC1281452" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10226129">Laparoscopic Vecchietti vaginoplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khater E,
|
||
Fatthy H</span><br />
|
||
<span class="medgenPMjournal">J Am Assoc Gynecol Laparosc</span>
|
||
1999 May;6(2):179-82.
|
||
doi: 10.1016/s1074-3804(99)80099-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10226129" target="_blank">10226129</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20of%20the%20vagina%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (994)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36562950">Update on Mayer-Rokitansky-Küster-Hauser syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen N,
|
||
Song S,
|
||
Bao X,
|
||
Zhu L</span><br />
|
||
<span class="medgenPMjournal">Front Med</span>
|
||
2022 Dec;16(6):859-872.
|
||
Epub 2022 Dec 23
|
||
doi: 10.1007/s11684-022-0969-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36562950" target="_blank">36562950</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34756327">ASRM müllerian anomalies classification 2021.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pfeifer SM,
|
||
Attaran M,
|
||
Goldstein J,
|
||
Lindheim SR,
|
||
Petrozza JC,
|
||
Rackow BW,
|
||
Siegelman E,
|
||
Troiano R,
|
||
Winter T,
|
||
Zuckerman A,
|
||
Ramaiah SD</span><br />
|
||
<span class="medgenPMjournal">Fertil Steril</span>
|
||
2021 Nov;116(5):1238-1252.
|
||
doi: 10.1016/j.fertnstert.2021.09.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34756327" target="_blank">34756327</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32819397">Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Herlin MK,
|
||
Petersen MB,
|
||
Brännström M</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2020 Aug 20;15(1):214.
|
||
doi: 10.1186/s13023-020-01491-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32819397" target="_blank">32819397</a><a href="/pmc/articles/PMC7439721" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31818111">Distal vaginal agenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gágyor D,
|
||
Pilka R,
|
||
Ondrová D,
|
||
Buláková S</span><br />
|
||
<span class="medgenPMjournal">Ceska Gynekol</span>
|
||
2019 Summer;84(4):283-288.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31818111" target="_blank">31818111</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19344847">Müllerian anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Breech LL,
|
||
Laufer MR</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol Clin North Am</span>
|
||
2009 Mar;36(1):47-68.
|
||
doi: 10.1016/j.ogc.2009.02.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19344847" target="_blank">19344847</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20of%20the%20vagina%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1562)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39121703">Cervicovaginal microbiome, high-risk HPV infection and cervical cancer: Mechanisms and therapeutic potential.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang R,
|
||
Liu Z,
|
||
Sun T,
|
||
Zhu L</span><br />
|
||
<span class="medgenPMjournal">Microbiol Res</span>
|
||
2024 Oct;287:127857.
|
||
Epub 2024 Jul 26
|
||
doi: 10.1016/j.micres.2024.127857.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39121703" target="_blank">39121703</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32819397">Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Herlin MK,
|
||
Petersen MB,
|
||
Brännström M</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2020 Aug 20;15(1):214.
|
||
doi: 10.1186/s13023-020-01491-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32819397" target="_blank">32819397</a><a href="/pmc/articles/PMC7439721" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29606635">Losing Sight.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">George M</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Radiol</span>
|
||
2018 Jun;15(6):823-824.
|
||
Epub 2018 Mar 30
|
||
doi: 10.1016/j.jacr.2018.02.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29606635" target="_blank">29606635</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28364867">Preventing urinary tract infections after menopause without antibiotics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Caretto M,
|
||
Giannini A,
|
||
Russo E,
|
||
Simoncini T</span><br />
|
||
<span class="medgenPMjournal">Maturitas</span>
|
||
2017 May;99:43-46.
|
||
Epub 2017 Feb 7
|
||
doi: 10.1016/j.maturitas.2017.02.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28364867" target="_blank">28364867</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10226129">Laparoscopic Vecchietti vaginoplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khater E,
|
||
Fatthy H</span><br />
|
||
<span class="medgenPMjournal">J Am Assoc Gynecol Laparosc</span>
|
||
1999 May;6(2):179-82.
|
||
doi: 10.1016/s1074-3804(99)80099-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10226129" target="_blank">10226129</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20of%20the%20vagina%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (430)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34756327">ASRM müllerian anomalies classification 2021.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pfeifer SM,
|
||
Attaran M,
|
||
Goldstein J,
|
||
Lindheim SR,
|
||
Petrozza JC,
|
||
Rackow BW,
|
||
Siegelman E,
|
||
Troiano R,
|
||
Winter T,
|
||
Zuckerman A,
|
||
Ramaiah SD</span><br />
|
||
<span class="medgenPMjournal">Fertil Steril</span>
|
||
2021 Nov;116(5):1238-1252.
|
||
doi: 10.1016/j.fertnstert.2021.09.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34756327" target="_blank">34756327</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33158227">The Cervicovaginal Mucus Barrier.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lacroix G,
|
||
Gouyer V,
|
||
Gottrand F,
|
||
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<div class="nl"><a target="_blank" href="/pubmed/28364867">Preventing urinary tract infections after menopause without antibiotics.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Caretto M,
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<div class="portlet_content ln"><span class="medgenPMauthor">Forman D,
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<div class="nl"><a target="_blank" href="/pubmed/10226129">Laparoscopic Vecchietti vaginoplasty.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Khater E,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20of%20the%20vagina%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (467)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/39242555">Insights into the assembly of the neovaginal microbiota in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome patients.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chen N,
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Hao L,
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Zhang Z,
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Qin C,
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Duan J,
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Huang X,
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Zhang Y,
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Gao H,
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Lu R,
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Sun T,
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Yang H,
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Shi J,
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Liang M,
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Guo J,
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Gao Q,
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Zhao X,
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Dou Z,
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Xiao L,
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Zhang S,
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Jin X,
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Xu X,
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Yang H,
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Wang J,
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Jia H,
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Zhang T,
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Kristiansen K,
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<span class="medgenPMjournal">Nat Commun</span>
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2024 Sep 6;15(1):7808.
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doi: 10.1038/s41467-024-52102-1.
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<span class="bold">PMID: </span><a href="/pubmed/39242555" target="_blank">39242555</a><a href="/pmc/articles/PMC11379825" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34756327">ASRM müllerian anomalies classification 2021.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pfeifer SM,
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Attaran M,
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Goldstein J,
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Lindheim SR,
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2021 Nov;116(5):1238-1252.
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doi: 10.1016/j.fertnstert.2021.09.025.
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<span class="bold">PMID: </span><a href="/pubmed/34756327" target="_blank">34756327</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25008480">Denonvilliers' fascia revisited.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kim JH,
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Kinugasa Y,
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Murakami G,
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2015 Mar;37(2):187-97.
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<span class="bold">PMID: </span><a href="/pubmed/25008480" target="_blank">25008480</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/17382829">Pelvic organ prolapse.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jelovsek JE,
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<span class="medgenPMjournal">Lancet</span>
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2007 Mar 24;369(9566):1027-38.
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<span class="bold">PMID: </span><a href="/pubmed/17382829" target="_blank">17382829</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6340892">Vaginal infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eschenbach DA</span><br />
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1983 Mar;26(1):186-202.
|
||
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<span class="bold">PMID: </span><a href="/pubmed/6340892" target="_blank">6340892</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20of%20the%20vagina%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (457)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/36305896">Reconstructive surgery for congenital atresia of the uterine cervix: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fedele F,
|
||
Parazzini F,
|
||
Vercellini P,
|
||
Bergamini V,
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||
Fedele L</span><br />
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||
<span class="medgenPMjournal">Arch Gynecol Obstet</span>
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||
2023 Sep;308(3):685-700.
|
||
Epub 2022 Oct 28
|
||
doi: 10.1007/s00404-022-06825-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36305896" target="_blank">36305896</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30039726">Bowel vaginoplasty: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Georgas K,
|
||
Belgrano V,
|
||
Andreasson M,
|
||
Elander A,
|
||
Selvaggi G</span><br />
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||
<span class="medgenPMjournal">J Plast Surg Hand Surg</span>
|
||
2018 Oct;52(5):265-273.
|
||
Epub 2018 Jul 24
|
||
doi: 10.1080/2000656X.2018.1482220.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30039726" target="_blank">30039726</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26537987">The presentation and management of complex female genital malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Acién P,
|
||
Acién M</span><br />
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||
<span class="medgenPMjournal">Hum Reprod Update</span>
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||
2016 Jan-Feb;22(1):48-69.
|
||
Epub 2015 Nov 3
|
||
doi: 10.1093/humupd/dmv048.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26537987" target="_blank">26537987</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25438708">Obstructive reproductive tract anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dietrich JE,
|
||
Millar DM,
|
||
Quint EH</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Adolesc Gynecol</span>
|
||
2014 Dec;27(6):396-402.
|
||
Epub 2014 Sep 11
|
||
doi: 10.1016/j.jpag.2014.09.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25438708" target="_blank">25438708</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25438707">Non-obstructive müllerian anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dietrich JE,
|
||
Millar DM,
|
||
Quint EH</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Adolesc Gynecol</span>
|
||
2014 Dec;27(6):386-95.
|
||
Epub 2014 Jul 17
|
||
doi: 10.1016/j.jpag.2014.07.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25438707" target="_blank">25438707</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20of%20the%20vagina%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (29)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(aplasia%20of%20the%20vagina)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Aplasia%20of%20the%20vagina%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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