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<meta name="keywords" content="C4477100, finding, meiotic maturation arrest of spermatogenesis, spermatogenesis maturation arrest, 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="Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1374029
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ConceptID=C4477100
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Spermatogenesis maturation arrest</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1374029</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:">C4477100</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Meiotic maturation arrest of spermatogenesis</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0031038">HP:0031038</a></td></tr>
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<div class="portlet_content ln">Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa. [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 class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Spermatogenesis maturation arrest</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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="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><ul><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="matched_ds">Spermatogenesis maturation arrest</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></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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<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>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_374322"><div><strong>Spermatogenic failure, X-linked, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374322</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.">C1839841</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any azoospermia in which the cause of the disease is a mutation in the TEX11 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374322">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934746"><div><strong>Spermatogenic failure 15</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934746</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.">C4310779</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934746">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648394"><div><strong>Spermatogenic failure 30</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648394</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.">C4748224</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spermatogenic failure-30 (SPGF30) is characterized by male infertility due to nonobstructive azoospermia or cryptozoospermia. The few sperm that have been observed are immotile and have small heads. Testicular histology in azoospermic patients shows incomplete maturation arrest, with a Sertoli cell-only pattern in some areas (Arafat et al., 2017). For a discussion of genetic heterogeneity of spermatogenic failure, see 258150.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648394">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1761843"><div><strong>Spermatogenic failure 48</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1761843</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.">C5436823</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spermatogenic failure-48 (SPGF48) is characterized by male infertility due to a variable spectrum of severely impaired spermatogenesis, primarily at meiosis and resulting in azoospermia. However, sparse postmeiotic germ cell development and retrieval of sperm in some cases has been reported (Wyrwoll et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see 258150.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1761843">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1747507"><div><strong>Spermatogenic failures 50</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1747507</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.">C5436888</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spermatogenic failure-50 (SPGF50) is characterized by male infertility due to azoospermia resulting from meiotic arrest at prophase I (Yang et al., 2018). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1747507">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794198"><div><strong>Spermatogenic failure 57</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794198</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.">C5561988</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spermatogenic failure-57 (SPGF57) is characterized by male infertility due to error-prone meiosis of germ cells and spermatogenic arrest at the late pachytene stage (Nagirnaja et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794198">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794244"><div><strong>Spermatogenic failure 59</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794244</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.">C5562034</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spermatogenic failure-59 (SPGF59) is characterized by male infertility due to nonobstructive azoospermia. Testicular biopsy shows maturation arrest (Salas-Huetos et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794244">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794245"><div><strong>Spermatogenic failure 60</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794245</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.">C5562035</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spermatogenic failure-60 (SPGF60) is characterized by male infertility due to nonobstructive azoospermia. Testicular biopsy shows maturation arrest before the pachytene stage (Krausz et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794245">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1801127"><div><strong>Spermatogenic failure 73</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1801127</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.">C5676988</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spermatogenic failure-73 (SPGF73) is characterized by male infertility, resulting from nonobstructive azoospermia due to meiotic arrest (Li et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1801127">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1812069"><div><strong>Spermatogenic failure 74</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1812069</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.">C5677010</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spermatogenic failure-74 (SPGF74) is characterized by nonobstructive azoospermia and male infertility due to complete meiotic arrest at the spermatocyte zygotene or pachytene stage. Some men exhibit reduced testicular volume and/or reduced testosterone level (Wyrwoll et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1812069">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934746" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 15</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648394" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 30</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1761843" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 48</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794198" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 57</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794244" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 59</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (10)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794245" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 60</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1801127" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 73</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1812069" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 74</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374322" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure, X-linked, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1747507" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failures 50</a></div></span></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/38221731">An integrated approach for improving clinical management of non-obstructive azoospermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shi F,
|
||
Liu Y,
|
||
Chen Z,
|
||
Li D,
|
||
Yao Y,
|
||
Zhou M,
|
||
Zhuo Y,
|
||
Ma X,
|
||
Cao D</span><br />
|
||
<span class="medgenPMjournal">Andrology</span>
|
||
2024 Sep;12(6):1312-1323.
|
||
Epub 2024 Jan 14
|
||
doi: 10.1111/andr.13587.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38221731" target="_blank">38221731</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32741963">Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krausz C,
|
||
Riera-Escamilla A,
|
||
Moreno-Mendoza D,
|
||
Holleman K,
|
||
Cioppi F,
|
||
Algaba F,
|
||
Pybus M,
|
||
Friedrich C,
|
||
Wyrwoll MJ,
|
||
Casamonti E,
|
||
Pietroforte S,
|
||
Nagirnaja L,
|
||
Lopes AM,
|
||
Kliesch S,
|
||
Pilatz A,
|
||
Carrell DT,
|
||
Conrad DF,
|
||
Ars E,
|
||
Ruiz-Castañé E,
|
||
Aston KI,
|
||
Baarends WM,
|
||
Tüttelmann F</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2020 Dec;22(12):1956-1966.
|
||
Epub 2020 Aug 3
|
||
doi: 10.1038/s41436-020-0907-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32741963" target="_blank">32741963</a><a href="/pmc/articles/PMC7710580" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17509211">Fertility testing and ICSI sperm selection by hyaluronic acid binding: clinical and genetic aspects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huszar G,
|
||
Jakab A,
|
||
Sakkas D,
|
||
Ozenci CC,
|
||
Cayli S,
|
||
Delpiano E,
|
||
Ozkavukcu S</span><br />
|
||
<span class="medgenPMjournal">Reprod Biomed Online</span>
|
||
2007 May;14(5):650-63.
|
||
doi: 10.1016/s1472-6483(10)61060-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17509211" target="_blank">17509211</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(spermatogenesis%20maturation%20arrest)%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 (14)</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/38846492">Research progress on the fanconi anemia signaling pathway in non-obstructive azoospermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu H,
|
||
Zhang Y,
|
||
Wang C,
|
||
Fu Z,
|
||
Lv J,
|
||
Yang Y,
|
||
Zhang Z,
|
||
Qi Y,
|
||
Meng K,
|
||
Yuan J,
|
||
Wang X</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2024;15:1393111.
|
||
Epub 2024 May 23
|
||
doi: 10.3389/fendo.2024.1393111.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38846492" target="_blank">38846492</a><a href="/pmc/articles/PMC11153779" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37843278">X-linked RBBP7 mutation causes maturation arrest and testicular tumors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li J,
|
||
Zheng H,
|
||
Hou J,
|
||
Chen J,
|
||
Zhang F,
|
||
Yang X,
|
||
Jin F,
|
||
Xi Y</span><br />
|
||
<span class="medgenPMjournal">J Clin Invest</span>
|
||
2023 Oct 16;133(20)
|
||
doi: 10.1172/JCI171541.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37843278" target="_blank">37843278</a><a href="/pmc/articles/PMC10575721" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16597641">The role of the testis-specific gene hTAF7L in the aetiology of male infertility.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stouffs K,
|
||
Willems A,
|
||
Lissens W,
|
||
Tournaye H,
|
||
Van Steirteghem A,
|
||
Liebaers I</span><br />
|
||
<span class="medgenPMjournal">Mol Hum Reprod</span>
|
||
2006 Apr;12(4):263-7.
|
||
Epub 2006 Apr 5
|
||
doi: 10.1093/molehr/gal020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16597641" target="_blank">16597641</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8345085">Growth hormone status in patients with maturation arrest of spermatogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shimonovitz S,
|
||
Zacut D,
|
||
Ben Chetrit A,
|
||
Ron M</span><br />
|
||
<span class="medgenPMjournal">Hum Reprod</span>
|
||
1993 Jun;8(6):919-21.
|
||
doi: 10.1093/oxfordjournals.humrep.a138166.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8345085" target="_blank">8345085</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1001531">Histones instead of protamines in terminal germ cells of infertile, oligospermic men.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silvestroni L,
|
||
Frajese G,
|
||
Fabrizio M</span><br />
|
||
<span class="medgenPMjournal">Fertil Steril</span>
|
||
1976 Dec;27(12):1428-37.
|
||
doi: 10.1016/s0015-0282(16)42260-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1001531" target="_blank">1001531</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spermatogenesis%20maturation%20arrest%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 (178)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28779347">MicroRNAs in Sertoli cells: implications for spermatogenesis and fertility.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Procópio MS,
|
||
de Avelar GF,
|
||
Costa GMJ,
|
||
Lacerda SMSN,
|
||
Resende RR,
|
||
de França LR</span><br />
|
||
<span class="medgenPMjournal">Cell Tissue Res</span>
|
||
2017 Dec;370(3):335-346.
|
||
Epub 2017 Aug 4
|
||
doi: 10.1007/s00441-017-2667-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28779347" target="_blank">28779347</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22523110">The role of molecular chaperones in spermatogenesis and the post-testicular maturation of mammalian spermatozoa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dun MD,
|
||
Aitken RJ,
|
||
Nixon B</span><br />
|
||
<span class="medgenPMjournal">Hum Reprod Update</span>
|
||
2012 Jul;18(4):420-35.
|
||
Epub 2012 Apr 20
|
||
doi: 10.1093/humupd/dms009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22523110" target="_blank">22523110</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19745793">Treatment options for impaired spermatogenesis: germ cell transplantation and stem-cell based therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neri QV,
|
||
Takeuchi T,
|
||
Rosenwaks Z,
|
||
Palermo GD</span><br />
|
||
<span class="medgenPMjournal">Minerva Ginecol</span>
|
||
2009 Aug;61(4):253-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19745793" target="_blank">19745793</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17161332">Gonadotrophin resistance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huhtaniemi I,
|
||
Alevizaki M</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
|
||
2006 Dec;20(4):561-76.
|
||
doi: 10.1016/j.beem.2006.09.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17161332" target="_blank">17161332</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10989206">Prognostic factors for successful testicle spermatid recover.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sousa M,
|
||
Fernandes S,
|
||
Barros A</span><br />
|
||
<span class="medgenPMjournal">Mol Cell Endocrinol</span>
|
||
2000 Aug 15;166(1):37-43.
|
||
doi: 10.1016/s0303-7207(00)00295-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10989206" target="_blank">10989206</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spermatogenesis%20maturation%20arrest%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 (141)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35967975">A systematic review of retinoic acid in the journey of spermatogonium to spermatozoa: From basic to clinical application.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Margiana R,
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<div class="nl"><a target="_blank" href="/pubmed/29808166">Spermatogenesis Abnormalities following Hormonal Therapy in Transwomen.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jindarak S,
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Atikankul T,
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Iamphongsai S,
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|
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<div class="nl"><a target="_blank" href="/pubmed/24193894">Outcome of microdissection TESE compared with conventional TESE in non-obstructive azoospermia: a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Deruyver Y,
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<div class="nl"><a target="_blank" href="/pubmed/17895238">Which is the best sperm retrieval technique for non-obstructive azoospermia? A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Donoso P,
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<span class="bold">PMID: </span><a href="/pubmed/17895238" target="_blank">17895238</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/8243695">Physiopathology of spermatogenic arrest.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Martin-du Pan RC,
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<div class="nl"><a target="_blank" href="/pubmed/34184924">Quantifying Heterogeneity of Testicular Histopathology in Men with Nonobstructive Azoospermia.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/34184924" target="_blank">34184924</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32741963">Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Krausz C,
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Moreno-Mendoza D,
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Casamonti E,
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<span class="bold">PMID: </span><a href="/pubmed/32741963" target="_blank">32741963</a><a href="/pmc/articles/PMC7710580" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/29973189">Testicular histopathology, semen analysis and FSH, predictive value of sperm retrieval: supportive counseling in case of reoperation after testicular sperm extraction (TESE).</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gnessi L,
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Scarselli F,
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Minasi MG,
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Mariani S,
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Lubrano C,
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Basciani S,
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Greco PF,
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<span class="bold">PMID: </span><a href="/pubmed/29973189" target="_blank">29973189</a><a href="/pmc/articles/PMC6032772" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24193894">Outcome of microdissection TESE compared with conventional TESE in non-obstructive azoospermia: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deruyver Y,
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Vanderschueren D,
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Van der Aa F</span><br />
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<span class="medgenPMjournal">Andrology</span>
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Epub 2013 Nov 6
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doi: 10.1111/j.2047-2927.2013.00148.x.
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||
<span class="bold">PMID: </span><a href="/pubmed/24193894" target="_blank">24193894</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10989206">Prognostic factors for successful testicle spermatid recover.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Sousa M,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spermatogenesis%20maturation%20arrest%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 (81)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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||
<div class="nl"><a target="_blank" href="/pubmed/37843278">X-linked RBBP7 mutation causes maturation arrest and testicular tumors.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Li J,
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Zheng H,
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Hou J,
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Chen J,
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Zhang F,
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<span class="bold">PMID: </span><a href="/pubmed/37843278" target="_blank">37843278</a><a href="/pmc/articles/PMC10575721" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30791486">The Centriolar Adjunct⁻Appearance and Disassembly in Spermiogenesis and the Potential Impact on Fertility.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Garanina AS,
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Alieva IB,
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Bragina EE,
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16597641">The role of the testis-specific gene hTAF7L in the aetiology of male infertility.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Stouffs K,
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<span class="bold">PMID: </span><a href="/pubmed/16597641" target="_blank">16597641</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8876269">Sertoli cell barrier dysfunction and spermatogenetic cycle breakdown in the human testis: a lanthanum tracer investigation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Meyer JM,
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Mezrahid P,
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Vignon F,
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Chabrier G,
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||
|
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<div class="nl"><a target="_blank" href="/pubmed/1634199">Cellular relationship impairment in maturation arrest of human spermatogenesis: an ultrastructural study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Meyer JM,
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Maetz JL,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spermatogenesis%20maturation%20arrest%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 (193)</a></div></div>
|
||
</div>
|
||
|
||
<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/35967975">A systematic review of retinoic acid in the journey of spermatogonium to spermatozoa: From basic to clinical application.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Margiana R,
|
||
Pakpahan C,
|
||
Pangestu M</span><br />
|
||
<span class="medgenPMjournal">F1000Res</span>
|
||
2022;11:552.
|
||
Epub 2022 May 20
|
||
doi: 10.12688/f1000research.110510.2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35967975" target="_blank">35967975</a><a href="/pmc/articles/PMC9345263" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27107595">In Vitro Spermatogenesis: How Far from Clinical Application?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Galdon G,
|
||
Atala A,
|
||
Sadri-Ardekani H</span><br />
|
||
<span class="medgenPMjournal">Curr Urol Rep</span>
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||
2016 Jul;17(7):49.
|
||
doi: 10.1007/s11934-016-0605-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27107595" target="_blank">27107595</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24193894">Outcome of microdissection TESE compared with conventional TESE in non-obstructive azoospermia: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deruyver Y,
|
||
Vanderschueren D,
|
||
Van der Aa F</span><br />
|
||
<span class="medgenPMjournal">Andrology</span>
|
||
2014 Jan;2(1):20-4.
|
||
Epub 2013 Nov 6
|
||
doi: 10.1111/j.2047-2927.2013.00148.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24193894" target="_blank">24193894</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17895238">Which is the best sperm retrieval technique for non-obstructive azoospermia? A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Donoso P,
|
||
Tournaye H,
|
||
Devroey P</span><br />
|
||
<span class="medgenPMjournal">Hum Reprod Update</span>
|
||
2007 Nov-Dec;13(6):539-49.
|
||
Epub 2007 Sep 24
|
||
doi: 10.1093/humupd/dmm029.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17895238" target="_blank">17895238</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spermatogenesis%20maturation%20arrest%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 (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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|
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Spermatogenesis%20maturation%20arrest" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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