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<meta name="keywords" content="C2930861, disease or syndrome, familial premature ovarian failure, hereditary primary ovarian failure, idiopathic familial premature ovarian failure, inherited poi, inherited premature ovarian failure, inherited primary ovarian failure, inherited primary ovarian insufficiency, non-acquired premature ovarian failure, premature ovarian failure, familial, 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="An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=443920
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ConceptID=C2930861
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Inherited primary ovarian failure</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>443920</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:">C2930861</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Idiopathic familial premature ovarian failure; Premature ovarian failure, familial</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0019852" target="_blank">MONDO:0019852</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS311360" target="_blank">PS311360</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=95710">ORPHA95710</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome. [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</div>
|
||
</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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">Inherited primary ovarian failure</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="matched_ds">Inherited primary ovarian failure</span><ul><li><span class="TLline"><a href="/medgen/146899" ref="tree=MeSH" title="MedGen record for 46 XX gonadal dysgenesis">46 XX gonadal dysgenesis</a></span></li><li><span class="TLline"><a href="/medgen/863846" ref="tree=MeSH" title="MedGen record for 46,XX ovarian dysgenesis-short stature syndrome">46,XX ovarian dysgenesis-short stature syndrome</a></span></li><li><span class="TLline"><a href="/medgen/743307" ref="tree=MeSH" title="MedGen record for Aromatase deficiency">Aromatase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/439" ref="tree=MeSH" title="MedGen record for Ataxia-telangiectasia syndrome">Ataxia-telangiectasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1843155" ref="tree=MeSH" title="MedGen record for Blepharophimosis-ptosis-epicanthus inversus syndrome type 1">Blepharophimosis-ptosis-epicanthus inversus syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/83341" ref="tree=MeSH" title="MedGen record for Congenital lipoid adrenal hyperplasia due to STAR deficency">Congenital lipoid adrenal hyperplasia due to STAR deficency</a></span><ul><li><span class="TLline"><a href="/medgen/1842881" ref="tree=MeSH" title="MedGen record for Classic congenital lipoid adrenal hyperplasia due to STAR deficency">Classic congenital lipoid adrenal hyperplasia due to STAR deficency</a></span></li><li><span class="TLline"><a href="/medgen/1842170" ref="tree=MeSH" title="MedGen record for Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency">Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82782" ref="tree=MeSH" title="MedGen record for Deficiency of steroid 17-alpha-monooxygenase">Deficiency of steroid 17-alpha-monooxygenase</a></span></li><li><span class="TLline"><a href="/medgen/82777" ref="tree=MeSH" title="MedGen record for Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase">Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase</a></span></li><li><span class="TLline"><a href="/medgen/120544" ref="tree=MeSH" title="MedGen record for Four X syndrome">Four X syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1806985" ref="tree=MeSH" title="MedGen record for Microcephalic primordial dwarfism-insulin resistance syndrome">Microcephalic primordial dwarfism-insulin resistance syndrome</a></span></li><li><span class="TLline"><a href="/medgen/355875" ref="tree=MeSH" title="MedGen record for Osteosclerosis-ichthyosis-premature ovarian failure syndrome">Osteosclerosis-ichthyosis-premature ovarian failure syndrome</a></span></li><li><span class="TLline"><a href="/medgen/151934" ref="tree=MeSH" title="MedGen record for Perrault syndrome">Perrault syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1640257" ref="tree=MeSH" title="MedGen record for Perrault syndrome 1">Perrault syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/767019" ref="tree=MeSH" title="MedGen record for Perrault syndrome 2">Perrault syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/814744" ref="tree=MeSH" title="MedGen record for Perrault syndrome 3">Perrault syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/815435" ref="tree=MeSH" title="MedGen record for Perrault syndrome 4">Perrault syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/863744" ref="tree=MeSH" title="MedGen record for Perrault syndrome 5">Perrault syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/1391447" ref="tree=MeSH" title="MedGen record for Perrault syndrome 6">Perrault syndrome 6</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/318882" ref="tree=MeSH" title="MedGen record for Satoyoshi syndrome">Satoyoshi syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1814467" ref="tree=MeSH" title="MedGen record for Symptomatic form of fragile X syndrome in female carrier">Symptomatic form of fragile X syndrome in female carrier</a></span></li><li><span class="TLline"><a href="/medgen/113140" ref="tree=MeSH" title="MedGen record for Trisomy X syndrome">Trisomy X syndrome</a></span></li><li><span class="TLline"><a href="/medgen/21734" ref="tree=MeSH" title="MedGen record for Turner syndrome">Turner syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/116607" ref="tree=MeSH" title="MedGen record for Monosomy X">Monosomy X</a></span></li><li><span class="TLline"><a href="/medgen/873772" ref="tree=MeSH" title="MedGen record for Mosaic Turner syndrome">Mosaic Turner syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1842425" ref="tree=MeSH" title="MedGen record for Turner syndrome due to structural X chromosome anomalies">Turner syndrome due to structural X chromosome anomalies</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1641475" ref="tree=MeSH" title="MedGen record for X small rings">X small rings</a></span></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28579413">Fertility in adult women with classic galactosemia and primary ovarian insufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Erven B,
|
||
Berry GT,
|
||
Cassiman D,
|
||
Connolly G,
|
||
Forga M,
|
||
Gautschi M,
|
||
Gubbels CS,
|
||
Hollak CEM,
|
||
Janssen MC,
|
||
Knerr I,
|
||
Labrune P,
|
||
Langendonk JG,
|
||
Õunap K,
|
||
Thijs A,
|
||
Vos R,
|
||
Wortmann SB,
|
||
Rubio-Gozalbo ME</span><br />
|
||
<span class="medgenPMjournal">Fertil Steril</span>
|
||
2017 Jul;108(1):168-174.
|
||
Epub 2017 Jun 1
|
||
doi: 10.1016/j.fertnstert.2017.05.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28579413" target="_blank">28579413</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25227148">EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Biancalana V,
|
||
Glaeser D,
|
||
McQuaid S,
|
||
Steinbach P</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2015 Apr;23(4):417-25.
|
||
Epub 2014 Sep 17
|
||
doi: 10.1038/ejhg.2014.185.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25227148" target="_blank">25227148</a><a href="/pmc/articles/PMC4666582" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16035691">Diagnosis and management of fragile X syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wattendorf DJ,
|
||
Muenke M</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2005 Jul 1;72(1):111-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16035691" target="_blank">16035691</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(inherited%20primary%20ovarian%20failure)%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 (17)</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/39391877">Primary ovarian insufficiency: update on clinical and genetic findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Federici S,
|
||
Rossetti R,
|
||
Moleri S,
|
||
Munari EV,
|
||
Frixou M,
|
||
Bonomi M,
|
||
Persani L</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2024;15:1464803.
|
||
Epub 2024 Sep 26
|
||
doi: 10.3389/fendo.2024.1464803.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39391877" target="_blank">39391877</a><a href="/pmc/articles/PMC11466302" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28579413">Fertility in adult women with classic galactosemia and primary ovarian insufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Erven B,
|
||
Berry GT,
|
||
Cassiman D,
|
||
Connolly G,
|
||
Forga M,
|
||
Gautschi M,
|
||
Gubbels CS,
|
||
Hollak CEM,
|
||
Janssen MC,
|
||
Knerr I,
|
||
Labrune P,
|
||
Langendonk JG,
|
||
Õunap K,
|
||
Thijs A,
|
||
Vos R,
|
||
Wortmann SB,
|
||
Rubio-Gozalbo ME</span><br />
|
||
<span class="medgenPMjournal">Fertil Steril</span>
|
||
2017 Jul;108(1):168-174.
|
||
Epub 2017 Jun 1
|
||
doi: 10.1016/j.fertnstert.2017.05.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28579413" target="_blank">28579413</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27861765">Genetics of primary ovarian insufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rossetti R,
|
||
Ferrari I,
|
||
Bonomi M,
|
||
Persani L</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2017 Feb;91(2):183-198.
|
||
Epub 2016 Dec 12
|
||
doi: 10.1111/cge.12921.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27861765" target="_blank">27861765</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25904009">Dynamics of the ovarian reserve and impact of genetic and epidemiological factors on age of menopause.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pelosi E,
|
||
Simonsick E,
|
||
Forabosco A,
|
||
Garcia-Ortiz JE,
|
||
Schlessinger D</span><br />
|
||
<span class="medgenPMjournal">Biol Reprod</span>
|
||
2015 May;92(5):130.
|
||
Epub 2015 Apr 22
|
||
doi: 10.1095/biolreprod.114.127381.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25904009" target="_blank">25904009</a><a href="/pmc/articles/PMC4645983" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18460934">Fragile X and reproduction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martin JR,
|
||
Arici A</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Obstet Gynecol</span>
|
||
2008 Jun;20(3):216-20.
|
||
doi: 10.1097/GCO.0b013e3282fe7254.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18460934" target="_blank">18460934</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inherited%20primary%20ovarian%20failure%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 (65)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30900171">Fragile X Syndrome: Introduction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reches A</span><br />
|
||
<span class="medgenPMjournal">Methods Mol Biol</span>
|
||
2019;1942:3-10.
|
||
doi: 10.1007/978-1-4939-9080-1_1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30900171" target="_blank">30900171</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28579413">Fertility in adult women with classic galactosemia and primary ovarian insufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Erven B,
|
||
Berry GT,
|
||
Cassiman D,
|
||
Connolly G,
|
||
Forga M,
|
||
Gautschi M,
|
||
Gubbels CS,
|
||
Hollak CEM,
|
||
Janssen MC,
|
||
Knerr I,
|
||
Labrune P,
|
||
Langendonk JG,
|
||
Õunap K,
|
||
Thijs A,
|
||
Vos R,
|
||
Wortmann SB,
|
||
Rubio-Gozalbo ME</span><br />
|
||
<span class="medgenPMjournal">Fertil Steril</span>
|
||
2017 Jul;108(1):168-174.
|
||
Epub 2017 Jun 1
|
||
doi: 10.1016/j.fertnstert.2017.05.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28579413" target="_blank">28579413</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25227148">EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Biancalana V,
|
||
Glaeser D,
|
||
McQuaid S,
|
||
Steinbach P</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2015 Apr;23(4):417-25.
|
||
Epub 2014 Sep 17
|
||
doi: 10.1038/ejhg.2014.185.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25227148" target="_blank">25227148</a><a href="/pmc/articles/PMC4666582" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24365352">Neurologic disorders associated with disease of the ovaries and testis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kattah JC,
|
||
Kattah WC</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2014;120:787-98.
|
||
doi: 10.1016/B978-0-7020-4087-0.00052-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24365352" target="_blank">24365352</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16035691">Diagnosis and management of fragile X syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wattendorf DJ,
|
||
Muenke M</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2005 Jul 1;72(1):111-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16035691" target="_blank">16035691</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inherited%20primary%20ovarian%20failure%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 (58)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38145859">Kuntai capsule attenuates premature ovarian insufficiency by activating the FOXO3/SIRT5 signaling pathway in mice: A comprehensive study using UHPLC-LTQ-Orbitrap and integrated pharmacology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gong L,
|
||
Hou J,
|
||
Yang H,
|
||
Zhang X,
|
||
Zhao J,
|
||
Wang L,
|
||
Yin X,
|
||
Feng X,
|
||
Yin C</span><br />
|
||
<span class="medgenPMjournal">J Ethnopharmacol</span>
|
||
2024 Mar 25;322:117625.
|
||
Epub 2023 Dec 23
|
||
doi: 10.1016/j.jep.2023.117625.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38145859" target="_blank">38145859</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37946490">Efficiency and safety of acupuncture for women with premature ovarian insufficiency: study protocol for a randomized controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yani XU,
|
||
Yutong Z,
|
||
Weile HE,
|
||
Linglin D,
|
||
Ding T,
|
||
Jialing W,
|
||
Xufen Z,
|
||
Qin C,
|
||
Lifang C,
|
||
Zhanglian W,
|
||
Mingjie Z</span><br />
|
||
<span class="medgenPMjournal">J Tradit Chin Med</span>
|
||
2023 Oct;43(6):1268-1274.
|
||
doi: 10.19852/j.cnki.jtcm.20230214.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37946490" target="_blank">37946490</a><a href="/pmc/articles/PMC10623257" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37233423">Identification of the active ingredients and pharmacological effects of Kuntai capsules in the treatment of primary ovarian insufficiency: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu FX,
|
||
Sun Y</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2023 May 26;102(21):e33884.
|
||
doi: 10.1097/MD.0000000000033884.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37233423" target="_blank">37233423</a><a href="/pmc/articles/PMC10219746" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16835432">Pathophysiology of impaired ovarian function in galactosaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Forges T,
|
||
Monnier-Barbarino P,
|
||
Leheup B,
|
||
Jouvet P</span><br />
|
||
<span class="medgenPMjournal">Hum Reprod Update</span>
|
||
2006 Sep-Oct;12(5):573-84.
|
||
Epub 2006 Jul 11
|
||
doi: 10.1093/humupd/dml031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16835432" target="_blank">16835432</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10234619">Hormone replacement therapy in galactosaemic twins with ovarian failure and severe osteoporosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Renner C,
|
||
Razeghi S,
|
||
Uberall MA,
|
||
Licht P,
|
||
Wildt L,
|
||
Dörr HG,
|
||
Hensen J,
|
||
Schweitzer S</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
1999 Apr;22(2):194-5.
|
||
doi: 10.1023/a:1005482826929.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10234619" target="_blank">10234619</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inherited%20primary%20ovarian%20failure%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 (12)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37982418">Homozygous missense variant in MEIOSIN causes premature ovarian insufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Q,
|
||
Zhang W,
|
||
Wu X,
|
||
Ke H,
|
||
Qin Y,
|
||
Zhao S,
|
||
Guo T</span><br />
|
||
<span class="medgenPMjournal">Hum Reprod</span>
|
||
2023 Nov 20;38(Suppl 2):ii47-ii56.
|
||
doi: 10.1093/humrep/dead084.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37982418" target="_blank">37982418</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29914564">Consanguineous familial study revealed biallelic FIGLA mutation associated with premature ovarian insufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen B,
|
||
Li L,
|
||
Wang J,
|
||
Li T,
|
||
Pan H,
|
||
Liu B,
|
||
Zhou Y,
|
||
Cao Y,
|
||
Wang B</span><br />
|
||
<span class="medgenPMjournal">J Ovarian Res</span>
|
||
2018 Jun 18;11(1):48.
|
||
doi: 10.1186/s13048-018-0413-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29914564" target="_blank">29914564</a><a href="/pmc/articles/PMC6006558" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28579413">Fertility in adult women with classic galactosemia and primary ovarian insufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Erven B,
|
||
Berry GT,
|
||
Cassiman D,
|
||
Connolly G,
|
||
Forga M,
|
||
Gautschi M,
|
||
Gubbels CS,
|
||
Hollak CEM,
|
||
Janssen MC,
|
||
Knerr I,
|
||
Labrune P,
|
||
Langendonk JG,
|
||
Õunap K,
|
||
Thijs A,
|
||
Vos R,
|
||
Wortmann SB,
|
||
Rubio-Gozalbo ME</span><br />
|
||
<span class="medgenPMjournal">Fertil Steril</span>
|
||
2017 Jul;108(1):168-174.
|
||
Epub 2017 Jun 1
|
||
doi: 10.1016/j.fertnstert.2017.05.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28579413" target="_blank">28579413</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27861765">Genetics of primary ovarian insufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rossetti R,
|
||
Ferrari I,
|
||
Bonomi M,
|
||
Persani L</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2017 Feb;91(2):183-198.
|
||
Epub 2016 Dec 12
|
||
doi: 10.1111/cge.12921.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27861765" target="_blank">27861765</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7553856">Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aittomäki K,
|
||
Lucena JL,
|
||
Pakarinen P,
|
||
Sistonen P,
|
||
Tapanainen J,
|
||
Gromoll J,
|
||
Kaskikari R,
|
||
Sankila EM,
|
||
Lehväslaiho H,
|
||
Engel AR,
|
||
Nieschlag E,
|
||
Huhtaniemi I,
|
||
de la Chapelle A</span><br />
|
||
<span class="medgenPMjournal">Cell</span>
|
||
1995 Sep 22;82(6):959-68.
|
||
doi: 10.1016/0092-8674(95)90275-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7553856" target="_blank">7553856</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inherited%20primary%20ovarian%20failure%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 (24)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30711457">Does theFMR1 gene affect IVF success?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pastore LM,
|
||
Christianson MS,
|
||
McGuinness B,
|
||
Vaught KC,
|
||
Maher JY,
|
||
Kearns WG</span><br />
|
||
<span class="medgenPMjournal">Reprod Biomed Online</span>
|
||
2019 Apr;38(4):560-569.
|
||
Epub 2018 Dec 10
|
||
doi: 10.1016/j.rbmo.2018.11.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30711457" target="_blank">30711457</a><a href="/pmc/articles/PMC7001757" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29914564">Consanguineous familial study revealed biallelic FIGLA mutation associated with premature ovarian insufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen B,
|
||
Li L,
|
||
Wang J,
|
||
Li T,
|
||
Pan H,
|
||
Liu B,
|
||
Zhou Y,
|
||
Cao Y,
|
||
Wang B</span><br />
|
||
<span class="medgenPMjournal">J Ovarian Res</span>
|
||
2018 Jun 18;11(1):48.
|
||
doi: 10.1186/s13048-018-0413-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29914564" target="_blank">29914564</a><a href="/pmc/articles/PMC6006558" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28579413">Fertility in adult women with classic galactosemia and primary ovarian insufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Erven B,
|
||
Berry GT,
|
||
Cassiman D,
|
||
Connolly G,
|
||
Forga M,
|
||
Gautschi M,
|
||
Gubbels CS,
|
||
Hollak CEM,
|
||
Janssen MC,
|
||
Knerr I,
|
||
Labrune P,
|
||
Langendonk JG,
|
||
Õunap K,
|
||
Thijs A,
|
||
Vos R,
|
||
Wortmann SB,
|
||
Rubio-Gozalbo ME</span><br />
|
||
<span class="medgenPMjournal">Fertil Steril</span>
|
||
2017 Jul;108(1):168-174.
|
||
Epub 2017 Jun 1
|
||
doi: 10.1016/j.fertnstert.2017.05.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28579413" target="_blank">28579413</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27861765">Genetics of primary ovarian insufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rossetti R,
|
||
Ferrari I,
|
||
Bonomi M,
|
||
Persani L</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2017 Feb;91(2):183-198.
|
||
Epub 2016 Dec 12
|
||
doi: 10.1111/cge.12921.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27861765" target="_blank">27861765</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10773392">Premature ovarian failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vegetti W,
|
||
Marozzi A,
|
||
Manfredini E,
|
||
Testa G,
|
||
Alagna F,
|
||
Nicolosi A,
|
||
Caliari I,
|
||
Taborelli M,
|
||
Tibiletti MG,
|
||
Dalprà L,
|
||
Crosignani PG</span><br />
|
||
<span class="medgenPMjournal">Mol Cell Endocrinol</span>
|
||
2000 Mar 30;161(1-2):53-7.
|
||
doi: 10.1016/s0303-7207(99)00224-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10773392" target="_blank">10773392</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inherited%20primary%20ovarian%20failure%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 (41)</a></div></div>
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