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1110 lines
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<meta name="keywords" content="C4025898, anatomical abnormality, functional abnormality of male internal genitalia, 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="" /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=871400
|
||
ConceptID=C4025898
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Functional abnormality of male internal genitalia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871400</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:">C4025898</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000025">HP:0000025</a></td></tr>
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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=C4025898[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=871400">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=871400" ref="ncbi_uid=871400">V</a></span></span><span class="TLline">Functional abnormality of male internal genitalia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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="TLline"><a href="/medgen/155422" ref="tree=MeSH" title="MedGen record for Abnormality of the genital system">Abnormality of the genital system</a></span><ul><li><span class="TLline"><a href="/medgen/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/866472" ref="tree=MeSH" title="MedGen record for Abnormal male reproductive system physiology">Abnormal male reproductive system physiology</a></span><ul><li><span class="matched_ds">Functional abnormality of male internal genitalia</span><ul><li><span class="TLline"><a href="/medgen/1841741" ref="tree=MeSH" title="MedGen record for Abnormal sperm physiology">Abnormal sperm physiology</a></span><ul><li><span class="TLline"><a href="/medgen/488943" ref="tree=MeSH" title="MedGen record for Abnormal sperm motility">Abnormal sperm motility</a></span><ul><li><span class="TLline"><a href="/medgen/1730031" ref="tree=MeSH" title="MedGen record for Reduced progressive sperm motility">Reduced progressive sperm motility</a></span></li><li><span class="TLline"><a href="/medgen/907698" ref="tree=MeSH" title="MedGen record for Reduced sperm motility">Reduced sperm motility</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/488909" ref="tree=MeSH" title="MedGen record for Abnormal spermatogenesis">Abnormal spermatogenesis</a></span><ul><li><span class="TLline"><a href="/medgen/2150" ref="tree=MeSH" title="MedGen record for Azoospermia">Azoospermia</a></span><ul><li><span class="TLline"><a href="/medgen/866757" ref="tree=MeSH" title="MedGen record for Non-obstructive azoospermia">Non-obstructive azoospermia</a></span></li><li><span class="TLline"><a href="/medgen/868703" ref="tree=MeSH" title="MedGen record for Obstructive azoospermia">Obstructive azoospermia</a></span></li><li><span class="TLline"><a href="/medgen/868702" ref="tree=MeSH" title="MedGen record for Pretesticular azoospermia">Pretesticular azoospermia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/889565" ref="tree=MeSH" title="MedGen record for Hypospermatogenesis">Hypospermatogenesis</a></span></li><li><span class="TLline"><a href="/medgen/678638" ref="tree=MeSH" title="MedGen record for Oligozoospermia">Oligozoospermia</a></span><ul><li><span class="TLline"><a href="/medgen/481180" ref="tree=MeSH" title="MedGen record for Cryptozoospermia">Cryptozoospermia</a></span></li><li><span class="TLline"><a href="/medgen/1841778" ref="tree=MeSH" title="MedGen record for Extreme oligozoospermia">Extreme oligozoospermia</a></span></li><li><span class="TLline"><a href="/medgen/896812" ref="tree=MeSH" title="MedGen record for Mild oligozoospermia">Mild oligozoospermia</a></span></li><li><span class="TLline"><a href="/medgen/1841781" ref="tree=MeSH" title="MedGen record for Moderate oligozoospermia">Moderate oligozoospermia</a></span></li><li><span class="TLline"><a href="/medgen/1640724" ref="tree=MeSH" title="MedGen record for Severe oligozoospermia">Severe oligozoospermia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1374029" ref="tree=MeSH" title="MedGen record for Spermatogenesis maturation arrest">Spermatogenesis maturation arrest</a></span><ul><li><span class="TLline"><a href="/medgen/1386128" ref="tree=MeSH" title="MedGen record for Round spermatid arrest">Round spermatid arrest</a></span></li><li><span class="TLline"><a href="/medgen/1372736" ref="tree=MeSH" title="MedGen record for Spermatocyte maturation arrest">Spermatocyte maturation arrest</a></span></li><li><span class="TLline"><a href="/medgen/1853186" ref="tree=MeSH" title="MedGen record for Spermatogonial maturation arrest">Spermatogonial maturation arrest</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
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||
<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/37214245">Individuals with numerical and structural variations of sex chromosomes: interdisciplinary management with focus on fertility potential.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Juul A,
|
||
Gravholt CH,
|
||
De Vos M,
|
||
Koledova E,
|
||
Cools M</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2023;14:1160884.
|
||
Epub 2023 May 5
|
||
doi: 10.3389/fendo.2023.1160884.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37214245" target="_blank">37214245</a><a href="/pmc/articles/PMC10197804" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34469891">Ovotesticular Difference of Sex Development: Genetic Background, Histological Features, and Clinical Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Syryn H,
|
||
Van De Vijver K,
|
||
Cools M</span><br />
|
||
<span class="medgenPMjournal">Horm Res Paediatr</span>
|
||
2023;96(2):180-189.
|
||
Epub 2021 Sep 1
|
||
doi: 10.1159/000519323.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34469891" target="_blank">34469891</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=(functional%20abnormality%20of%20male%20internal%20genitalia)%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 (19)</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/35671390">The genetic landscape of germline DDX41 variants predisposing to myeloid neoplasms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li P,
|
||
Brown S,
|
||
Williams M,
|
||
White T,
|
||
Xie W,
|
||
Cui W,
|
||
Peker D,
|
||
Lei L,
|
||
Kunder CA,
|
||
Wang HY,
|
||
Murray SS,
|
||
Vagher J,
|
||
Kovacsovics T,
|
||
Patel JL</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2022 Aug 18;140(7):716-755.
|
||
doi: 10.1182/blood.2021015135.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35671390" target="_blank">35671390</a><a href="/pmc/articles/PMC9389629" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29503125">Disorders of sex development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Witchel SF</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Obstet Gynaecol</span>
|
||
2018 Apr;48:90-102.
|
||
Epub 2017 Nov 22
|
||
doi: 10.1016/j.bpobgyn.2017.11.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29503125" target="_blank">29503125</a><a href="/pmc/articles/PMC5866176" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27224879">Steroid 5α-reductase 2 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mendonca BB,
|
||
Batista RL,
|
||
Domenice S,
|
||
Costa EM,
|
||
Arnhold IJ,
|
||
Russell DW,
|
||
Wilson JD</span><br />
|
||
<span class="medgenPMjournal">J Steroid Biochem Mol Biol</span>
|
||
2016 Oct;163:206-11.
|
||
Epub 2016 May 22
|
||
doi: 10.1016/j.jsbmb.2016.05.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27224879" target="_blank">27224879</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26810244">Diethylstilbestrol-induced mouse hypospadias: "window of susceptibility".</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sinclair AW,
|
||
Cao M,
|
||
Baskin L,
|
||
Cunha GR</span><br />
|
||
<span class="medgenPMjournal">Differentiation</span>
|
||
2016 Jan-Mar;91(1-3):1-18.
|
||
Epub 2016 Jan 20
|
||
doi: 10.1016/j.diff.2016.01.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26810244" target="_blank">26810244</a><a href="/pmc/articles/PMC4803596" target="_blank" class="PubMedFree">Free PMC Article</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=%22Functional%20abnormality%20of%20male%20internal%20genitalia%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 (149)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37020056">Genetic control of typical and atypical sex development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reyes AP,
|
||
León NY,
|
||
Frost ER,
|
||
Harley VR</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Urol</span>
|
||
2023 Jul;20(7):434-451.
|
||
Epub 2023 Apr 5
|
||
doi: 10.1038/s41585-023-00754-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37020056" target="_blank">37020056</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35671390">The genetic landscape of germline DDX41 variants predisposing to myeloid neoplasms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li P,
|
||
Brown S,
|
||
Williams M,
|
||
White T,
|
||
Xie W,
|
||
Cui W,
|
||
Peker D,
|
||
Lei L,
|
||
Kunder CA,
|
||
Wang HY,
|
||
Murray SS,
|
||
Vagher J,
|
||
Kovacsovics T,
|
||
Patel JL</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2022 Aug 18;140(7):716-755.
|
||
doi: 10.1182/blood.2021015135.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35671390" target="_blank">35671390</a><a href="/pmc/articles/PMC9389629" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32966723">Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Merke DP,
|
||
Auchus RJ</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Sep 24;383(13):1248-1261.
|
||
doi: 10.1056/NEJMra1909786.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32966723" target="_blank">32966723</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29503125">Disorders of sex development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Witchel SF</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Obstet Gynaecol</span>
|
||
2018 Apr;48:90-102.
|
||
Epub 2017 Nov 22
|
||
doi: 10.1016/j.bpobgyn.2017.11.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29503125" target="_blank">29503125</a><a href="/pmc/articles/PMC5866176" target="_blank" class="PubMedFree">Free PMC Article</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=%22Functional%20abnormality%20of%20male%20internal%20genitalia%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 (168)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39222519">Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Syryn H,
|
||
Van de Velde J,
|
||
De Clercq G,
|
||
Verdin H,
|
||
Dheedene A,
|
||
Peelman F,
|
||
Sinclair A,
|
||
Ayers KL,
|
||
Bathgate RAD,
|
||
Cools M,
|
||
De Baere E</span><br />
|
||
<span class="medgenPMjournal">Hum Reprod</span>
|
||
2024 Oct 1;39(10):2353-2363.
|
||
doi: 10.1093/humrep/deae195.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39222519" target="_blank">39222519</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32966723">Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Merke DP,
|
||
Auchus RJ</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Sep 24;383(13):1248-1261.
|
||
doi: 10.1056/NEJMra1909786.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32966723" target="_blank">32966723</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31915325">Cryptorchidism after the Fukushima Daiichi Nuclear Power Plant accident:causation or coincidence?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kojima Y,
|
||
Yokoya S,
|
||
Kurita N,
|
||
Idaka T,
|
||
Ishikawa T,
|
||
Tanaka H,
|
||
Ezawa Y,
|
||
Ohto H</span><br />
|
||
<span class="medgenPMjournal">Fukushima J Med Sci</span>
|
||
2019;65(3):76-98.
|
||
doi: 10.5387/fms.2019-22.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31915325" target="_blank">31915325</a><a href="/pmc/articles/PMC7012587" target="_blank" class="PubMedFree">Free PMC Article</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 class="nl"><a target="_blank" href="/pubmed/21799142">Effects of the exposure to mobile phones on male reproduction: a review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">La Vignera S,
|
||
Condorelli RA,
|
||
Vicari E,
|
||
D'Agata R,
|
||
Calogero AE</span><br />
|
||
<span class="medgenPMjournal">J Androl</span>
|
||
2012 May-Jun;33(3):350-6.
|
||
Epub 2011 Jul 28
|
||
doi: 10.2164/jandrol.111.014373.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21799142" target="_blank">21799142</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Functional%20abnormality%20of%20male%20internal%20genitalia%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 (50)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38589878">High incidence of imperforate vagina in ADGRA3-deficient mice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kvam JM,
|
||
Nybo ML,
|
||
Torz L,
|
||
Sustarsic RK,
|
||
Jensen KHR,
|
||
Nielsen JE,
|
||
Frederiksen H,
|
||
Gadgaard S,
|
||
Spiess K,
|
||
Poulsen SS,
|
||
Thomsen JS,
|
||
Cowin P,
|
||
Blomberg Jensen M,
|
||
Kurita T,
|
||
Rosenkilde MM</span><br />
|
||
<span class="medgenPMjournal">BMC Biol</span>
|
||
2024 Apr 8;22(1):77.
|
||
doi: 10.1186/s12915-024-01873-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38589878" target="_blank">38589878</a><a href="/pmc/articles/PMC11003089" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26698233">The varicocele: diagnostic dilemmas, therapeutic challenges and future perspectives.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chiba K,
|
||
Ramasamy R,
|
||
Lamb DJ,
|
||
Lipshultz LI</span><br />
|
||
<span class="medgenPMjournal">Asian J Androl</span>
|
||
2016 Mar-Apr;18(2):276-81.
|
||
doi: 10.4103/1008-682X.167724.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26698233" target="_blank">26698233</a><a href="/pmc/articles/PMC4770499" target="_blank" class="PubMedFree">Free PMC Article</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,
|
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Greinix HT,
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Arora M,
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Williams KM,
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Wolff D,
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Cowen EW,
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Palmer J,
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Weisdorf D,
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Treister NS,
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Cheng GS,
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Kerr H,
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Stratton P,
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Duarte RF,
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McDonald GB,
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Inamoto Y,
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Vigorito A,
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Arai S,
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Datiles MB,
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Jacobsohn D,
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Heller T,
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Martin PJ,
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Shulman H,
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Wu RS,
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Cutler CS,
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2015 Mar;21(3):389-401.e1.
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<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>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23044870">Advice on the management of ambiguous genitalia to a young endocrinologist from experienced clinicians.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilson JD,
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||
Rivarola MA,
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Mendonca BB,
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Warne GL,
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Josso N,
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<span class="medgenPMjournal">Semin Reprod Med</span>
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2012 Oct;30(5):339-50.
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Epub 2012 Oct 8
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doi: 10.1055/s-0032-1324717.
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<span class="bold">PMID: </span><a href="/pubmed/23044870" target="_blank">23044870</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/20367315">Papillary cystadenoma of the epididymis.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Odrzywolski KJ,
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Mukhopadhyay S</span><br />
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<span class="medgenPMjournal">Arch Pathol Lab Med</span>
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2010 Apr;134(4):630-3.
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doi: 10.5858/134.4.630.
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<span class="bold">PMID: </span><a href="/pubmed/20367315" target="_blank">20367315</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Functional%20abnormality%20of%20male%20internal%20genitalia%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 (58)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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||
<div class="nl"><a target="_blank" href="/pubmed/37011422">Morphology of the male rat gonad after in Utero exposure to immunosuppressants.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Freus M,
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Kabat-Koperska J,
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Frulenko I,
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Wiszniewska B,
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<span class="medgenPMjournal">Reprod Biol</span>
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||
2023 Jun;23(2):100757.
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||
Epub 2023 Apr 1
|
||
doi: 10.1016/j.repbio.2023.100757.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37011422" target="_blank">37011422</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33921254">Telomere Length and Male Fertility.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Gentiluomo M,
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Luddi A,
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Cingolani A,
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Fornili M,
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Governini L,
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Lucenteforte E,
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Baglietto L,
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||
Piomboni P,
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||
Campa D</span><br />
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||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2021 Apr 12;22(8)
|
||
doi: 10.3390/ijms22083959.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33921254" target="_blank">33921254</a><a href="/pmc/articles/PMC8069448" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33176961">Ontogeny of estrogen receptors in human male and female fetal reproductive tracts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cunha GR,
|
||
Li Y,
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||
Mei C,
|
||
Derpinghaus A,
|
||
Baskin LS</span><br />
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||
<span class="medgenPMjournal">Differentiation</span>
|
||
2021 Mar-Apr;118:107-131.
|
||
Epub 2020 Oct 17
|
||
doi: 10.1016/j.diff.2020.10.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33176961" target="_blank">33176961</a><a href="/pmc/articles/PMC8026520" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31665438">The External Genitalia Score (EGS): A European Multicenter Validation Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van der Straaten S,
|
||
Springer A,
|
||
Zecic A,
|
||
Hebenstreit D,
|
||
Tonnhofer U,
|
||
Gawlik A,
|
||
Baumert M,
|
||
Szeliga K,
|
||
Debulpaep S,
|
||
Desloovere A,
|
||
Tack L,
|
||
Smets K,
|
||
Wasniewska M,
|
||
Corica D,
|
||
Calafiore M,
|
||
Ljubicic ML,
|
||
Busch AS,
|
||
Juul A,
|
||
Nordenström A,
|
||
Sigurdsson J,
|
||
Flück CE,
|
||
Haamberg T,
|
||
Graf S,
|
||
Hannema SE,
|
||
Wolffenbuttel KP,
|
||
Hiort O,
|
||
Ahmed SF,
|
||
Cools M</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2020 Mar 1;105(3)
|
||
doi: 10.1210/clinem/dgz142.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31665438" target="_blank">31665438</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26810244">Diethylstilbestrol-induced mouse hypospadias: "window of susceptibility".</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sinclair AW,
|
||
Cao M,
|
||
Baskin L,
|
||
Cunha GR</span><br />
|
||
<span class="medgenPMjournal">Differentiation</span>
|
||
2016 Jan-Mar;91(1-3):1-18.
|
||
Epub 2016 Jan 20
|
||
doi: 10.1016/j.diff.2016.01.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26810244" target="_blank">26810244</a><a href="/pmc/articles/PMC4803596" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Functional%20abnormality%20of%20male%20internal%20genitalia%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 (85)</a></div></div>
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<div class="portlet_content ln">
|
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<div class="nl"><a target="_blank" href="/pubmed/27856173">Fertility in disorders of sex development: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van Batavia JP,
|
||
Kolon TF</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2016 Dec;12(6):418-425.
|
||
Epub 2016 Nov 3
|
||
doi: 10.1016/j.jpurol.2016.09.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27856173" target="_blank">27856173</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Functional%20abnormality%20of%20male%20internal%20genitalia%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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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4025898%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(functional%20abnormality%20of%20male%20internal%20genitalia)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Functional%20abnormality%20of%20male%20internal%20genitalia%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4025898[DISCUI]" ref="log$=recordlinks">GTR</a>
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