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<!--
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||
UID=155422
|
||
ConceptID=C0744356
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of the genital system</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155422</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.">C0744356</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Genital anomalies</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:0000078">HP:0000078</a></td></tr>
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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">An abnormality of the genital system. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</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="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0744356[DISCUI]&test_type=Clinical" ref="ncbi_uid=155422">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</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=155422" ref="ncbi_uid=155422">V</a></span></span><span class="TLline">Abnormality of the genital system</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/52948" ref="tree=MeSH" title="MedGen record for Abnormality of the genitourinary system">Abnormality of the genitourinary system</a></span><ul><li><span class="matched_ds">Abnormality of the genital system</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/871335" ref="tree=MeSH" title="MedGen record for Abnormal external genitalia morphology">Abnormal external genitalia morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868566" ref="tree=MeSH" title="MedGen record for Abnormal genital pigmentation">Abnormal genital pigmentation</a></span></li><li><span class="TLline"><a href="/medgen/338563" ref="tree=MeSH" title="MedGen record for Absent external genitalia">Absent external genitalia</a></span></li><li><span class="TLline"><a href="/medgen/78596" ref="tree=MeSH" title="MedGen record for Ambiguous genitalia">Ambiguous genitalia</a></span></li><li><span class="TLline"><a href="/medgen/344478" ref="tree=MeSH" title="MedGen record for External genital hypoplasia">External genital hypoplasia</a></span></li><li><span class="TLline"><a href="/medgen/377097" ref="tree=MeSH" title="MedGen record for Overgrowth of external genitalia">Overgrowth of external genitalia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868310" ref="tree=MeSH" title="MedGen record for Abnormal germ cell morphology">Abnormal germ cell morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868309" ref="tree=MeSH" title="MedGen record for Abnormal male germ cell morphology">Abnormal male germ cell morphology</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871334" ref="tree=MeSH" title="MedGen record for Abnormal internal genitalia">Abnormal internal genitalia</a></span><ul><li><span class="TLline"><a href="/medgen/870202" ref="tree=MeSH" title="MedGen record for Absent internal genitalia">Absent internal genitalia</a></span></li><li><span class="TLline"><a href="/medgen/899272" ref="tree=MeSH" title="MedGen record for Agonadism">Agonadism</a></span></li><li><span class="TLline"><a href="/medgen/9075" ref="tree=MeSH" title="MedGen record for Gonadal dysgenesis">Gonadal dysgenesis</a></span></li><li><span class="TLline"><a href="/medgen/65992" ref="tree=MeSH" title="MedGen record for Gonadal hypoplasia">Gonadal hypoplasia</a></span></li><li><span class="TLline"><a href="/medgen/1842034" ref="tree=MeSH" title="MedGen record for Presence of uterus in 46,XY individual">Presence of uterus in 46,XY individual</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868597" ref="tree=MeSH" title="MedGen record for Abnormal sex determination">Abnormal sex determination</a></span><ul><li><span class="TLline"><a href="/medgen/868596" ref="tree=MeSH" title="MedGen record for Sex reversal">Sex reversal</a></span></li></ul></li><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/867445" ref="tree=MeSH" title="MedGen record for Abnormal female external genitalia morphology">Abnormal female external genitalia morphology</a></span></li><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></li></ul></li><li><span class="TLline"><a href="/medgen/869392" ref="tree=MeSH" title="MedGen record for Abnormality of the male genitalia">Abnormality of the male genitalia</a></span><ul><li><span class="TLline"><a href="/medgen/871399" ref="tree=MeSH" title="MedGen record for Abnormal male external genitalia morphology">Abnormal male external genitalia morphology</a></span></li><li><span class="TLline"><a href="/medgen/1815043" ref="tree=MeSH" title="MedGen record for Abnormal male internal genitalia morphology">Abnormal male internal genitalia morphology</a></span></li><li><span class="TLline"><a href="/medgen/1053825" ref="tree=MeSH" title="MedGen record for Immediate detumescence of penis at time of symptom onset">Immediate detumescence of penis at time of symptom onset</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/341276" ref="tree=MeSH" title="MedGen record for Anteriorly displaced genitalia">Anteriorly displaced genitalia</a></span></li><li><span class="TLline"><a href="/medgen/871261" ref="tree=MeSH" title="MedGen record for Genital tract atresia">Genital tract atresia</a></span><ul><li><span class="TLline"><a href="/medgen/232948" ref="tree=MeSH" title="MedGen record for Vaginal atresia">Vaginal atresia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/57716" ref="tree=MeSH" title="MedGen record for Genital ulcers">Genital ulcers</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892582" ref="tree=MeSH" title="MedGen record for Abnormality of reproductive system physiology">Abnormality of reproductive system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/892419" ref="tree=MeSH" title="MedGen record for Abnormal female reproductive system physiology">Abnormal female reproductive system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/1372412" ref="tree=MeSH" title="MedGen record for Abnormal ovarian physiology">Abnormal ovarian physiology</a></span></li><li><span class="TLline"><a href="/medgen/1814405" ref="tree=MeSH" title="MedGen record for Abnormal vaginal physiology">Abnormal vaginal physiology</a></span></li><li><span class="TLline"><a href="/medgen/893088" ref="tree=MeSH" title="MedGen record for Abnormality of the menstrual cycle">Abnormality of the menstrual cycle</a></span></li><li><span class="TLline"><a href="/medgen/807402" ref="tree=MeSH" title="MedGen record for Female sexual dysfunction">Female sexual dysfunction</a></span></li><li><span class="TLline"><a href="/medgen/19421" ref="tree=MeSH" title="MedGen record for Postmenopausal bleeding">Postmenopausal bleeding</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1779633" ref="tree=MeSH" title="MedGen record for Abnormal gametogenesis">Abnormal gametogenesis</a></span><ul><li><span class="TLline"><a href="/medgen/1615877" ref="tree=MeSH" title="MedGen record for Abnormal meiosis">Abnormal meiosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1644032" ref="tree=MeSH" title="MedGen record for Abnormal libido">Abnormal libido</a></span><ul><li><span class="TLline"><a href="/medgen/3701" ref="tree=MeSH" title="MedGen record for Decreased libido">Decreased libido</a></span></li><li><span class="TLline"><a href="/medgen/5776" ref="tree=MeSH" title="MedGen record for Increased libido">Increased libido</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/866472" ref="tree=MeSH" title="MedGen record for Abnormal male reproductive system physiology">Abnormal male reproductive system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/754337" ref="tree=MeSH" title="MedGen record for Abnormal ejaculation">Abnormal ejaculation</a></span></li><li><span class="TLline"><a href="/medgen/871400" ref="tree=MeSH" title="MedGen record for Functional abnormality of male internal genitalia">Functional abnormality of male internal genitalia</a></span></li><li><span class="TLline"><a href="/medgen/894560" ref="tree=MeSH" title="MedGen record for Low semen volume">Low semen volume</a></span></li><li><span class="TLline"><a href="/medgen/910882" ref="tree=MeSH" title="MedGen record for Male sexual dysfunction">Male sexual dysfunction</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/65860" ref="tree=MeSH" title="MedGen record for Anorgasmia">Anorgasmia</a></span><ul><li><span class="TLline"><a href="/medgen/892329" ref="tree=MeSH" title="MedGen record for Female anorgasmia">Female anorgasmia</a></span></li><li><span class="TLline"><a href="/medgen/1379130" ref="tree=MeSH" title="MedGen record for Male anorgasmia">Male anorgasmia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/452706" ref="tree=MeSH" title="MedGen record for Decreased fertility">Decreased fertility</a></span><ul><li><span class="TLline"><a href="/medgen/57728" ref="tree=MeSH" title="MedGen record for Decreased fertility in females">Decreased fertility in females</a></span></li><li><span class="TLline"><a href="/medgen/452752" ref="tree=MeSH" title="MedGen record for Decreased fertility in males">Decreased fertility in males</a></span></li><li><span class="TLline"><a href="/medgen/43876" ref="tree=MeSH" title="MedGen record for Infertility disorder">Infertility disorder</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
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|
||
<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_75696"><div><strong>Multiple acyl-CoA dehydrogenase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75696</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.">C0268596</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple acyl-CoA dehydrogenase deficiency (MADD) represents a clinical spectrum in which presentations can be divided into type I (neonatal onset with congenital anomalies), type II (neonatal onset without congenital anomalies), and type III (late onset). Individuals with type I or II MADD typically become symptomatic in the neonatal period with severe metabolic acidosis, which may be accompanied by profound hypoglycemia and hyperammonemia. Many affected individuals die in the newborn period despite metabolic treatment. In those who survive the neonatal period, recurrent metabolic decompensation resembling Reye syndrome and the development of hypertrophic cardiomyopathy can occur. Congenital anomalies may include dysmorphic facial features, large cystic kidneys, hypospadias and chordee in males, and neuronal migration defects (heterotopias) on brain MRI. Individuals with type III MADD, the most common presentation, can present from infancy to adulthood. The most common symptoms are muscle weakness, exercise intolerance, and/or muscle pain, although metabolic decompensation with episodes of rhabdomyolysis can also be seen. Rarely, individuals with late-onset MADD (type III) may develop severe sensory neuropathy in addition to proximal myopathy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75696">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_96569"><div><strong>Renal cysts and diabetes syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96569</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.">C0431693</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/96569">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_342798"><div><strong>Cerebrooculofacioskeletal syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342798</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.">C1853100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebrooculofacioskeletal syndrome-4 (COFS4) is a severe autosomal recessive disorder characterized by growth retardation, dysmorphic facial features, arthrogryposis, and neurologic abnormalities. Cellular studies show a defect in both transcription-coupled and global genome nucleotide excision repair (TC-NER and GG-NER) (summary by Jaspers et al., 2007 and Kashiyama et al., 2013). For a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see 214150.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342798">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341067"><div><strong>Mowat-Wilson syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341067</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:">C1856113</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mowat-Wilson syndrome (MWS) is characterized by distinctive facial features (widely spaced eyes, broad eyebrows with a medial flare, low-hanging columella, prominent or pointed chin, open-mouth expression, and uplifted earlobes with a central depression), congenital heart defects with predilection for abnormalities of the pulmonary arteries and/or valves, Hirschsprung disease or chronic constipation, genitourinary anomalies (particularly hypospadias in males), and hypogenesis or agenesis of the corpus callosum. Most affected individuals have moderate-to-severe intellectual disability. Speech is typically limited to a few words or is absent, with relative preservation of receptive language skills. Growth restriction with microcephaly and seizure disorder are also common. Most affected people have a happy demeanor and a wide-based gait that can sometimes be confused with Angelman syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341067">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342798" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebrooculofacioskeletal syndrome 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341067" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mowat-Wilson syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75696" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple acyl-CoA dehydrogenase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96569" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal cysts and diabetes syndrome</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/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/31324117">Uterine adenomyosis: pathogenesis, diagnostics, symptomatology and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lacheta J</span><br />
|
||
<span class="medgenPMjournal">Ceska Gynekol</span>
|
||
2019 Spring;84(3):240-246.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31324117" target="_blank">31324117</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25529383">National Institutes of Health Consensus Development Project on Criteria for Clinical Trials in Chronic Graft-versus-Host Disease: I. The 2014 Diagnosis and Staging Working Group report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jagasia MH,
|
||
Greinix HT,
|
||
Arora M,
|
||
Williams KM,
|
||
Wolff D,
|
||
Cowen EW,
|
||
Palmer J,
|
||
Weisdorf D,
|
||
Treister NS,
|
||
Cheng GS,
|
||
Kerr H,
|
||
Stratton P,
|
||
Duarte RF,
|
||
McDonald GB,
|
||
Inamoto Y,
|
||
Vigorito A,
|
||
Arai S,
|
||
Datiles MB,
|
||
Jacobsohn D,
|
||
Heller T,
|
||
Kitko CL,
|
||
Mitchell SA,
|
||
Martin PJ,
|
||
Shulman H,
|
||
Wu RS,
|
||
Cutler CS,
|
||
Vogelsang GB,
|
||
Lee SJ,
|
||
Pavletic SZ,
|
||
Flowers ME</span><br />
|
||
<span class="medgenPMjournal">Biol Blood Marrow Transplant</span>
|
||
2015 Mar;21(3):389-401.e1.
|
||
Epub 2014 Dec 18
|
||
doi: 10.1016/j.bbmt.2014.12.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25529383" target="_blank">25529383</a><a href="/pmc/articles/PMC4329079" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormality%20of%20the%20genital%20system)%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 (1496)</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/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/32800274">Mechanisms of oocyte aneuploidy associated with advanced maternal age.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mikwar M,
|
||
MacFarlane AJ,
|
||
Marchetti F</span><br />
|
||
<span class="medgenPMjournal">Mutat Res Rev Mutat Res</span>
|
||
2020 Jul-Sep;785:108320.
|
||
Epub 2020 Jul 4
|
||
doi: 10.1016/j.mrrev.2020.108320.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32800274" target="_blank">32800274</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28190103">Hypospadias, all there is to know.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van der Horst HJ,
|
||
de Wall LL</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2017 Apr;176(4):435-441.
|
||
Epub 2017 Feb 11
|
||
doi: 10.1007/s00431-017-2864-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28190103" target="_blank">28190103</a><a href="/pmc/articles/PMC5352742" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23771171">The ESHRE/ESGE consensus on the classification of female genital tract congenital anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grimbizis GF,
|
||
Gordts S,
|
||
Di Spiezio Sardo A,
|
||
Brucker S,
|
||
De Angelis C,
|
||
Gergolet M,
|
||
Li TC,
|
||
Tanos V,
|
||
Brölmann H,
|
||
Gianaroli L,
|
||
Campo R</span><br />
|
||
<span class="medgenPMjournal">Hum Reprod</span>
|
||
2013 Aug;28(8):2032-44.
|
||
Epub 2013 Jun 14
|
||
doi: 10.1093/humrep/det098.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23771171" target="_blank">23771171</a><a href="/pmc/articles/PMC3712660" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20920258">Acro-cardio-facial syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Digilio MC,
|
||
Dallapiccola B</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2010 Sep 29;5:25.
|
||
doi: 10.1186/1750-1172-5-25.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20920258" target="_blank">20920258</a><a href="/pmc/articles/PMC2955584" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20genital%20system%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 (14222)</a></div><h3 class="subhead">Diagnosis</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/32127135">Diagnosis and treatment of müllerian malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Passos IMPE,
|
||
Britto RL</span><br />
|
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<div class="nl"><a target="_blank" href="/pubmed/1152164">Bilateral anorchism.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/20610195">Cryptorchidism.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Toppari J,
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<div class="nl"><a target="_blank" href="/pubmed/38345425">Accessory cavitated uterine malformation (ACUM): A scoping review.</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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<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/31665438">The External Genitalia Score (EGS): A European Multicenter Validation Study.</a></div>
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Springer A,
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Zecic A,
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Desloovere A,
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Coelho Neto MA,
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Ludwin I,
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<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
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2020 Jun;55(6):815-829.
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<span class="bold">PMID: </span><a href="/pubmed/31432589" target="_blank">31432589</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27235766">Uterine septum: a guideline.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Practice Committee of the American Society for Reproductive Medicine. Electronic address: ASRM@asrm.org;
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Practice Committee of the American Society for Reproductive Medicine</span><br />
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<span class="medgenPMjournal">Fertil Steril</span>
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<span class="bold">PMID: </span><a href="/pubmed/27235766" target="_blank">27235766</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20genital%20system%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 (8591)</a></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/35146992">Impact of anabolic androgenic steroids on male sexual and reproductive function: a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Esposito M,
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Salerno M,
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Calvano G,
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Agliozzo R,
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Ficarra V,
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Sessa F,
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Favilla V,
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Cimino S,
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Pomara C</span><br />
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<span class="medgenPMjournal">Panminerva Med</span>
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2023 Mar;65(1):43-50.
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Epub 2022 Feb 11
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doi: 10.23736/S0031-0808.22.04677-8.
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<span class="bold">PMID: </span><a href="/pubmed/35146992" target="_blank">35146992</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31301048">Sperm DNA Fragmentation: Consequences for Reproduction.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Simon L,
|
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Emery B,
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Carrell DT</span><br />
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<span class="medgenPMjournal">Adv Exp Med Biol</span>
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2019;1166:87-105.
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doi: 10.1007/978-3-030-21664-1_6.
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<span class="bold">PMID: </span><a href="/pubmed/31301048" target="_blank">31301048</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30916627">Cannabis and Male Fertility: A Systematic Review.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Payne KS,
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Mazur DJ,
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Hotaling JM,
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Pastuszak AW</span><br />
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<span class="medgenPMjournal">J Urol</span>
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2019 Oct;202(4):674-681.
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Epub 2019 Sep 6
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<span class="bold">PMID: </span><a href="/pubmed/30916627" target="_blank">30916627</a><a href="/pmc/articles/PMC7385722" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/26867640">Effects of aging on the male reproductive system.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gunes S,
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Hekim GN,
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Arslan MA,
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<span class="medgenPMjournal">J Assist Reprod Genet</span>
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<span class="bold">PMID: </span><a href="/pubmed/26867640" target="_blank">26867640</a><a href="/pmc/articles/PMC4818633" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25487360">Am I normal? A systematic review and construction of nomograms for flaccid and erect penis length and circumference in up to 15,521 men.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Veale D,
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Miles S,
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<span class="bold">PMID: </span><a href="/pubmed/25487360" target="_blank">25487360</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20genital%20system%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 (332)</a></div></div>
|
||
</div>
|
||
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|
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<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0744356%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (14)</a></li>
|
||
<li><a href="/gtr/tests?term=C0744356%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (14)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0744356%5bDISCUI%5d" target="_blank">See all (14)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Abnormality%20of%20the%20genital%20system" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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