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<meta name="keywords" content="C5566555, congenital absence of the uterus and vagina (cauv), congenital absence of uterus and vagina, disease or syndrome, genital renal ear syndrome, mayer rokitansky kuster hauser syndrome type 1, mayer rokitansky küster hauser syndrome type 1, mayer-rokitansky-kuster-hauser syndrome, mayer-rokitansky-kuster-hauser syndrome (mrkh), mayer-rokitansky-kuster-hauser syndrome type 1, mayer-rokitansky-küster-hauser syndrome type 1, mrk anomaly, mrkh, mrkh (mayer rokitansky küster hauser) syndrome type 1, mrkh anomaly, mrkh syndrome, mrkh syndrome type 1, mullerian aplasia/dysgenesis, mullerian dysgenesis, müllerian agenesis, rokitansky sequence, rokitansky syndrome, urogenital adysplasia, uterus bipartitus solidus rudimentarius cum vagina solida, von mayer-rokitansky-kuster anomaly, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="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)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1797978
|
||
ConceptID=C5566555
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Mayer Rokitansky Kuster Hauser syndrome type 1<span class="h1sub">(MRKH)</span></div></h1><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."><span class="highlight" style="background-color:">C5566555</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>MRKH</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Mayer Rokitansky Küster Hauser syndrome type 1 (1162832007); MRKH (Mayer Rokitansky Küster Hauser) syndrome type 1 (1162832007)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010173" target="_blank">MONDO:0010173</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/277000" target="_blank">277000</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=247775">ORPHA247775</a></td></tr></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 mgSection" id="ID_100">
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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">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). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_5482"><div><strong>Hematocolpos</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5482</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.">C0018934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Accumulation of blood in the vagina usually due to vaginal obstruction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5482">Feature record</a> | <a href="/medgen?term=%22Hematocolpos%22%5BClinical%20Features%5D%20OR%205482%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10836"><div><strong>Polycystic ovaries</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10836</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.">C0032460</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Polycystic ovary syndrome is a condition that affects women in their child-bearing years and alters the levels of multiple hormones, resulting in problems affecting many body systems.\n\nMost women with polycystic ovary syndrome produce excess male sex hormones (androgens), a condition called hyperandrogenism. Having too much of these hormones typically leads to excessive body hair growth (hirsutism), acne, and male pattern baldness.\n\nHyperandrogenism and abnormal levels of other sex hormones prevent normal release of egg cells from the ovaries (ovulation) and regular menstrual periods, leading to difficulty conceiving a child (subfertility) or a complete inability to conceive (infertility). For those who achieve pregnancy, there is an increased risk of complications and pregnancy loss. Due to irregular and infrequent menstruation and hormone abnormalities, affected women have an increased risk of cancer of the uterine lining (endometrial cancer).\n\nIn polycystic ovary syndrome, one or both ovaries can contain multiple small, immature ovarian follicles that can appear as cysts on medical imaging. Normally, ovarian follicles contain egg cells, which are released during ovulation. In polycystic ovary syndrome, abnormal hormone levels prevent follicles from growing and maturing to release egg cells. Instead, these immature follicles accumulate in the ovaries. Affected women can have 12 or more of these follicles. The number of these follicles usually decreases with age.\n\nAbout half of all women with polycystic ovary syndrome are overweight or have obesity and are at increased risk of a fatty liver. Additionally, many women with polycystic ovary syndrome have elevated levels of insulin, which is a hormone that helps control levels of blood glucose, also called blood sugar. By age 40, about 10 percent of overweight women with polycystic ovary syndrome develop abnormally high blood glucose levels (type 2 diabetes), and up to 35 percent develop prediabetes (higher-than-normal blood glucose levels that do not reach the cutoff for diabetes). Obesity and increased insulin levels (hyperinsulinemia) further increase the production of androgens in polycystic ovary syndrome.\n\nWomen with polycystic ovary syndrome are also at increased risk for developing metabolic syndrome, which is a group of conditions that include high blood pressure (hypertension), increased belly fat, high levels of unhealthy fats and low levels of healthy fats in the blood, and high blood glucose levels. About 20 percent of affected adults experience pauses in breathing during sleep (sleep apnea). Women with polycystic ovary syndrome are more likely than women in the general popluation to have mood disorders such as depression.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10836">Feature record</a> | <a href="/medgen?term=%22Polycystic%20ovaries%22%5BClinical%20Features%5D%20OR%2010836%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_115918"><div><strong>Primary amenorrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115918</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.">C0232939</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally late or absent menarche in a female with normal secondary sexual characteristics.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115918">Feature record</a> | <a href="/medgen?term=%22Primary%20amenorrhea%22%5BClinical%20Features%5D%20OR%20115918%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78600"><div><strong>Unilateral aplasia of the mullerian ducts</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78600</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.">C0266389</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78600">Feature record</a> | <a href="/medgen?term=%22Unilateral%20aplasia%20of%20the%20mullerian%20ducts%22%5BClinical%20Features%5D%20OR%2078600%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120575"><div><strong>Uterine hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120575</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.">C0266399</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the uterus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120575">Feature record</a> | <a href="/medgen?term=%22Uterine%20hypoplasia%22%5BClinical%20Features%5D%20OR%20120575%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98421"><div><strong>Aplasia of the uterus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98421</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.">C0425913</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A congenital defect characterized by absence of the uterus. Aplasia refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98421">Feature record</a> | <a href="/medgen?term=%22Aplasia%20of%20the%20uterus%22%5BClinical%20Features%5D%20OR%2098421%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_330738"><div><strong>Aplasia of the vagina</strong><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></div>
|
||
<div class="spaceAbove">Aplasia of the vagina.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/330738">Feature record</a> | <a href="/medgen?term=%22Aplasia%20of%20the%20vagina%22%5BClinical%20Features%5D%20OR%20330738%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811388"><div><strong>Multicystic kidney dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811388</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.">C3714581</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811388">Feature record</a> | <a href="/medgen?term=%22Multicystic%20kidney%20dysplasia%22%5BClinical%20Features%5D%20OR%20811388%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_813461"><div><strong>Reduced renal corticomedullary differentiation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>813461</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.">C3807131</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced differentiation between renal cortex and medulla on diagnostic imaging.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/813461">Feature record</a> | <a href="/medgen?term=%22Reduced%20renal%20corticomedullary%20differentiation%22%5BClinical%20Features%5D%20OR%20813461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_854361"><div><strong>Renal cyst</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854361</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.">C3887499</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A fluid filled sac in the kidney.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854361">Feature record</a> | <a href="/medgen?term=%22Renal%20cyst%22%5BClinical%20Features%5D%20OR%20854361%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867445"><div><strong>Abnormal female external genitalia morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867445</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.">C4021822</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any structural abnormality of the female external genitalia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867445">Feature record</a> | <a href="/medgen?term=%22Abnormal%20female%20external%20genitalia%20morphology%22%5BClinical%20Features%5D%20OR%20867445%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868394"><div><strong>Aplasia of the upper vagina</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868394</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.">C4022788</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A failure to develop of the upper vagina.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868394">Feature record</a> | <a href="/medgen?term=%22Aplasia%20of%20the%20upper%20vagina%22%5BClinical%20Features%5D%20OR%20868394%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1757337"><div><strong>Renal medullary hyperechogenicity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1757337</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.">C5421631</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased echogenecity of the medullary region of the kidney.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1757337">Feature record</a> | <a href="/medgen?term=%22Renal%20medullary%20hyperechogenicity%22%5BClinical%20Features%5D%20OR%201757337%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98391"><div><strong>Downslanted palpebral fissures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98391</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.">C0423110</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The palpebral fissure inclination is more than two standard deviations below the mean.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98391">Feature record</a> | <a href="/medgen?term=%22Downslanted%20palpebral%20fissures%22%5BClinical%20Features%5D%20OR%2098391%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_387768"><div><strong>Sparse lateral eyebrow</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>387768</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.">C1857206</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased density/number and/or decreased diameter of lateral eyebrow hairs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/387768">Feature record</a> | <a href="/medgen?term=%22Sparse%20lateral%20eyebrow%22%5BClinical%20Features%5D%20OR%20387768%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98391" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Downslanted palpebral fissures</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_387768" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sparse lateral eyebrow</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867445" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal female external genitalia morphology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868394" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aplasia of the upper vagina</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98421" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aplasia of the uterus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_330738" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aplasia of the vagina</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5482" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hematocolpos</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811388" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multicystic kidney dysplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10836" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polycystic ovaries</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115918" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary amenorrhea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_813461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced renal corticomedullary differentiation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_854361" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal cyst</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1757337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal medullary hyperechogenicity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78600" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Unilateral aplasia of the mullerian ducts</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120575" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Uterine hypoplasia</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<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>
|
||
<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="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0431648[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=140915">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=140915" target="_blank" href="/omim/277000">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=140915" ref="ncbi_uid=140915">V</a></span></span><span class="TLline"><a href="/medgen/140915" ref="tree=GTR&ncbi_uid=140915&link_uid=140915" title="View MedGen record for 'Mayer-Rokitansky-Kuster-Hauser syndrome'">Mayer-Rokitansky-Kuster-Hauser syndrome</a></span><ul><li class="matched_ds"><span class="TLline">Mayer Rokitansky Kuster Hauser syndrome type 1</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=931237" target="_blank" href="/omim/601076">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=931237" ref="ncbi_uid=931237">V</a></span></span><span class="TLline"><a href="/medgen/931237" ref="tree=GTR&ncbi_uid=931237&link_uid=931237" title="View MedGen record for 'Mayer-Rokitansky-Küster-Hauser syndrome type 2'">Mayer-Rokitansky-Küster-Hauser syndrome type 2</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842556" ref="tree=MeSH" title="MedGen record for Female infertility due to an implantation defect">Female infertility due to an implantation defect</a></span><ul><li><span class="TLline"><a href="/medgen/140915" ref="tree=MeSH" title="MedGen record for Mayer-Rokitansky-Kuster-Hauser syndrome">Mayer-Rokitansky-Kuster-Hauser syndrome</a></span><ul><li><span class="matched_ds">Mayer Rokitansky Kuster Hauser syndrome type 1</span></li></ul></li></ul></li></ul></div></div></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/23499866">The genetic basis of female reproductive disorders: etiology and clinical testing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Layman LC</span><br />
|
||
<span class="medgenPMjournal">Mol Cell Endocrinol</span>
|
||
2013 May 6;370(1-2):138-48.
|
||
Epub 2013 Mar 14
|
||
doi: 10.1016/j.mce.2013.02.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23499866" target="_blank">23499866</a><a href="/pmc/articles/PMC3767392" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22806600">Vaginal malformations: a proposed classification based on embryological, anatomical and clinical criteria and their surgical management (an analysis of 167 cases).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruggeri G,
|
||
Gargano T,
|
||
Antonellini C,
|
||
Carlini V,
|
||
Randi B,
|
||
Destro F,
|
||
Lima M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2012 Aug;28(8):797-803.
|
||
doi: 10.1007/s00383-012-3121-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22806600" target="_blank">22806600</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(mayer%20rokitansky%20kuster%20hauser%20syndrome%20type%201)%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 (2)</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/33745726">Clinical characteristics of 1,055 Chinese patients with Mayer-Rokitansky-Küster-Hauser syndrome: a nationwide multicentric study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen N,
|
||
Pan H,
|
||
Luo G,
|
||
Wang P,
|
||
Xie Z,
|
||
Hua K,
|
||
Luo X,
|
||
Huang X,
|
||
Liu Q,
|
||
Sun L,
|
||
Hu W,
|
||
Tao G,
|
||
Zhao S,
|
||
Wu N,
|
||
Zhu L</span><br />
|
||
<span class="medgenPMjournal">Fertil Steril</span>
|
||
2021 Aug;116(2):558-565.
|
||
Epub 2021 Mar 19
|
||
doi: 10.1016/j.fertnstert.2021.02.033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33745726" target="_blank">33745726</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28600106">Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williams LS,
|
||
Demir Eksi D,
|
||
Shen Y,
|
||
Lossie AC,
|
||
Chorich LP,
|
||
Sullivan ME,
|
||
Phillips JA 3rd,
|
||
Erman M,
|
||
Kim HG,
|
||
Alper OM,
|
||
Layman LC</span><br />
|
||
<span class="medgenPMjournal">Fertil Steril</span>
|
||
2017 Jul;108(1):145-151.e2.
|
||
Epub 2017 Jun 7
|
||
doi: 10.1016/j.fertnstert.2017.05.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28600106" target="_blank">28600106</a><a href="/pmc/articles/PMC5770980" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27825026">Congenital malformations and other comorbidities in 125 women with Mayer-Rokitansky-Küster-Hauser syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kapczuk K,
|
||
Iwaniec K,
|
||
Friebe Z,
|
||
Kędzia W</span><br />
|
||
<span class="medgenPMjournal">Eur J Obstet Gynecol Reprod Biol</span>
|
||
2016 Dec;207:45-49.
|
||
Epub 2016 Oct 26
|
||
doi: 10.1016/j.ejogrb.2016.10.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27825026" target="_blank">27825026</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26610373">Mutations in WNT9B are associated with Mayer-Rokitansky-Küster-Hauser syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Waschk DE,
|
||
Tewes AC,
|
||
Römer T,
|
||
Hucke J,
|
||
Kapczuk K,
|
||
Schippert C,
|
||
Hillemanns P,
|
||
Wieacker P,
|
||
Ledig S</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2016 May;89(5):590-6.
|
||
Epub 2016 Jan 20
|
||
doi: 10.1111/cge.12701.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26610373" target="_blank">26610373</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26148785">Typical and Atypical Associated Findings in a Group of 346 Patients with Mayer-Rokitansky-Kuester-Hauser Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rall K,
|
||
Eisenbeis S,
|
||
Henninger V,
|
||
Henes M,
|
||
Wallwiener D,
|
||
Bonin M,
|
||
Brucker S</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Adolesc Gynecol</span>
|
||
2015 Oct;28(5):362-8.
|
||
Epub 2014 Nov 11
|
||
doi: 10.1016/j.jpag.2014.07.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26148785" target="_blank">26148785</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mayer%20Rokitansky%20Kuster%20Hauser%20syndrome%20type%201%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 (24)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35851218">Renal abnormalities associated with Mayer-Rokitansky-Küster-Hauser syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dorosiev E,
|
||
Muzikadzhieva G,
|
||
Mladenov B,
|
||
Stoev I,
|
||
Velev D</span><br />
|
||
<span class="medgenPMjournal">Folia Med (Plovdiv)</span>
|
||
2021 Oct 31;63(5):815-818.
|
||
doi: 10.3897/folmed.63.e63325.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35851218" target="_blank">35851218</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34768925">Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kapczuk K,
|
||
Kędzia W</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2021 Oct 25;22(21)
|
||
doi: 10.3390/ijms222111495.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34768925" target="_blank">34768925</a><a href="/pmc/articles/PMC8584168" target="_blank" class="PubMedFree">Free PMC Article</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/32348039">Mayer-Rokitansky-Küster-Hauser syndrome as an interdisciplinary problem.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liszewska-Kapłon M,
|
||
Strózik M,
|
||
Kotarski Ł,
|
||
Bagłaj M,
|
||
Hirnle L</span><br />
|
||
<span class="medgenPMjournal">Adv Clin Exp Med</span>
|
||
2020 Apr;29(4):505-511.
|
||
doi: 10.17219/acem/118850.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32348039" target="_blank">32348039</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29177592">Hyperandrogenemia and ovarian reserve in patients with Mayer-Rokitansky-Küster-Hauser syndrome type 1 and 2: potential influences on ovarian stimulation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Henes M,
|
||
Jurow L,
|
||
Peter A,
|
||
Schoenfisch B,
|
||
Taran FA,
|
||
Huebner M,
|
||
Seeger H,
|
||
Brucker SY,
|
||
Rall KK</span><br />
|
||
<span class="medgenPMjournal">Arch Gynecol Obstet</span>
|
||
2018 Feb;297(2):513-520.
|
||
Epub 2017 Nov 24
|
||
doi: 10.1007/s00404-017-4596-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29177592" target="_blank">29177592</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mayer%20Rokitansky%20Kuster%20Hauser%20syndrome%20type%201%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 (29)</a></div><h3 class="subhead">Therapy</h3>
|
||
<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/26075712">Associations of Polymorphisms in WNT9B and PBX1 with Mayer-Rokitansky-Küster-Hauser Syndrome in Chinese Han.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ma W,
|
||
Li Y,
|
||
Wang M,
|
||
Li H,
|
||
Su T,
|
||
Li Y,
|
||
Wang S</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2015;10(6):e0130202.
|
||
Epub 2015 Jun 15
|
||
doi: 10.1371/journal.pone.0130202.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26075712" target="_blank">26075712</a><a href="/pmc/articles/PMC4468103" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24438220">Laparoscopic vaginoplasty using a sigmoid graft through the umbilical single-incision hybrid transperineal approach: our initial experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li S,
|
||
Sun C,
|
||
Shi B,
|
||
Li M,
|
||
Liu L</span><br />
|
||
<span class="medgenPMjournal">J Laparoendosc Adv Surg Tech A</span>
|
||
2014 May;24(5):354-8.
|
||
Epub 2014 Jan 17
|
||
doi: 10.1089/lap.2013.0158.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24438220" target="_blank">24438220</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mayer%20Rokitansky%20Kuster%20Hauser%20syndrome%20type%201%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36814312">An unusual association of type II Mayer-Rokitansky-Kuster-Hauser syndrome, turner mosaic syndrome and tubo-ovarian inguinal hernia- case report and review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mahey R,
|
||
Rana A,
|
||
Cheluvaraju R,
|
||
Vyas S,
|
||
Raj R,
|
||
Bhatla N</span><br />
|
||
<span class="medgenPMjournal">J Ovarian Res</span>
|
||
2023 Feb 23;16(1):43.
|
||
doi: 10.1186/s13048-022-01067-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36814312" target="_blank">36814312</a><a href="/pmc/articles/PMC9948362" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35361250">Variants in genes related to development of the urinary system are associated with Mayer-Rokitansky-Küster-Hauser syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chu C,
|
||
Li L,
|
||
Li S,
|
||
Zhou Q,
|
||
Zheng P,
|
||
Zhang YD,
|
||
Duan AH,
|
||
Lu D,
|
||
Wu YM</span><br />
|
||
<span class="medgenPMjournal">Hum Genomics</span>
|
||
2022 Mar 31;16(1):10.
|
||
doi: 10.1186/s40246-022-00385-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35361250" target="_blank">35361250</a><a href="/pmc/articles/PMC8969342" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29030159">Obstructive Müllerian Anomalies in Menstruating Adolescent Girls: A Report of 22 Cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kapczuk K,
|
||
Friebe Z,
|
||
Iwaniec K,
|
||
Kędzia W</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Adolesc Gynecol</span>
|
||
2018 Jun;31(3):252-257.
|
||
Epub 2017 Oct 10
|
||
doi: 10.1016/j.jpag.2017.09.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29030159" target="_blank">29030159</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27825026">Congenital malformations and other comorbidities in 125 women with Mayer-Rokitansky-Küster-Hauser syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kapczuk K,
|
||
Iwaniec K,
|
||
Friebe Z,
|
||
Kędzia W</span><br />
|
||
<span class="medgenPMjournal">Eur J Obstet Gynecol Reprod Biol</span>
|
||
2016 Dec;207:45-49.
|
||
Epub 2016 Oct 26
|
||
doi: 10.1016/j.ejogrb.2016.10.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27825026" target="_blank">27825026</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22129802">Renal and urological abnormalities occurring with Mullerian anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hall-Craggs MA,
|
||
Kirkham A,
|
||
Creighton SM</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2013 Feb;9(1):27-32.
|
||
Epub 2011 Nov 29
|
||
doi: 10.1016/j.jpurol.2011.11.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22129802" target="_blank">22129802</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mayer%20Rokitansky%20Kuster%20Hauser%20syndrome%20type%201%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 (10)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35819292">Tissue Engineering Neovagina for Vaginoplasty in Mayer-Rokitansky-Küster-Hauser Syndrome and Gender Dysphoria Patients: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sueters J,
|
||
Groenman FA,
|
||
Bouman MB,
|
||
Roovers JPW,
|
||
de Vries R,
|
||
Smit TH,
|
||
Huirne JAF</span><br />
|
||
<span class="medgenPMjournal">Tissue Eng Part B Rev</span>
|
||
2023 Feb;29(1):28-46.
|
||
Epub 2022 Sep 7
|
||
doi: 10.1089/ten.TEB.2022.0067.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35819292" target="_blank">35819292</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35361250">Variants in genes related to development of the urinary system are associated with Mayer-Rokitansky-Küster-Hauser syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chu C,
|
||
Li L,
|
||
Li S,
|
||
Zhou Q,
|
||
Zheng P,
|
||
Zhang YD,
|
||
Duan AH,
|
||
Lu D,
|
||
Wu YM</span><br />
|
||
<span class="medgenPMjournal">Hum Genomics</span>
|
||
2022 Mar 31;16(1):10.
|
||
doi: 10.1186/s40246-022-00385-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35361250" target="_blank">35361250</a><a href="/pmc/articles/PMC8969342" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32283327">Neovagina Creation: A Novel Improved Laparoscopic Vecchietti Procedure in Patients with Mayer-Rokitansky-Küster-Hauster Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang YY,
|
||
Duan H,
|
||
Zhang XN,
|
||
Wang S</span><br />
|
||
<span class="medgenPMjournal">J Minim Invasive Gynecol</span>
|
||
2021 Jan;28(1):82-92.
|
||
Epub 2020 Apr 10
|
||
doi: 10.1016/j.jmig.2020.04.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32283327" target="_blank">32283327</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32196630">Live birth after robotic-assisted live donor uterus transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brännström M,
|
||
Dahm-Kähler P,
|
||
Kvarnström N,
|
||
Akouri R,
|
||
Rova K,
|
||
Olausson M,
|
||
Groth K,
|
||
Ekberg J,
|
||
Enskog A,
|
||
Sheikhi M,
|
||
Mölne J,
|
||
Bokström H</span><br />
|
||
<span class="medgenPMjournal">Acta Obstet Gynecol Scand</span>
|
||
2020 Sep;99(9):1222-1229.
|
||
Epub 2020 Apr 12
|
||
doi: 10.1111/aogs.13853.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32196630" target="_blank">32196630</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31369396">Evaluation of the abdominopelvic region using MRI in patients with primary amenorrhea.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gündoğdu E,
|
||
Emekli E,
|
||
Oğuzman M,
|
||
Kebapçı M</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2019 Sep 25;32(9):995-1003.
|
||
doi: 10.1515/jpem-2019-0223.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31369396" target="_blank">31369396</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mayer%20Rokitansky%20Kuster%20Hauser%20syndrome%20type%201%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 (8)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/35819292">Tissue Engineering Neovagina for Vaginoplasty in Mayer-Rokitansky-Küster-Hauser Syndrome and Gender Dysphoria Patients: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sueters J,
|
||
Groenman FA,
|
||
Bouman MB,
|
||
Roovers JPW,
|
||
de Vries R,
|
||
Smit TH,
|
||
Huirne JAF</span><br />
|
||
<span class="medgenPMjournal">Tissue Eng Part B Rev</span>
|
||
2023 Feb;29(1):28-46.
|
||
Epub 2022 Sep 7
|
||
doi: 10.1089/ten.TEB.2022.0067.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35819292" target="_blank">35819292</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mayer%20Rokitansky%20Kuster%20Hauser%20syndrome%20type%201%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 (1)</a></div></div>
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