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<meta name="keywords" content="C0857576, abnormal thyroid function, abnormality of thyroid physiology, finding, 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 abnormal functionality of the thyroid gland." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=808233
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ConceptID=C0857576
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of thyroid physiology</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>808233</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:">C0857576</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Abnormal thyroid function</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002926">HP:0002926</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">An abnormal functionality of the thyroid gland. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Abnormality of thyroid physiology</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/893021" ref="tree=MeSH" title="MedGen record for Abnormality of the endocrine system">Abnormality of the endocrine system</a></span><ul><li><span class="TLline"><a href="/medgen/1378579" ref="tree=MeSH" title="MedGen record for Abnormality of the thyroid gland">Abnormality of the thyroid gland</a></span><ul><li><span class="matched_ds">Abnormality of thyroid physiology</span><ul><li><span class="TLline"><a href="/medgen/1617797" ref="tree=MeSH" title="MedGen record for Abnormal radioactive iodine uptake test result">Abnormal radioactive iodine uptake test result</a></span><ul><li><span class="TLline"><a href="/medgen/1621149" ref="tree=MeSH" title="MedGen record for Increased radioactive iodine uptake">Increased radioactive iodine uptake</a></span></li><li><span class="TLline"><a href="/medgen/1624161" ref="tree=MeSH" title="MedGen record for Reduced radioactive iodine uptake">Reduced radioactive iodine uptake</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1757761" ref="tree=MeSH" title="MedGen record for Abnormal TSH response to thyrotrophin-releasing hormone stimulation test">Abnormal TSH response to thyrotrophin-releasing hormone stimulation test</a></span><ul><li><span class="TLline"><a href="/medgen/1725687" ref="tree=MeSH" title="MedGen record for Absent TSH response to thyrotrophin-releasing hormone stimulation test">Absent TSH response to thyrotrophin-releasing hormone stimulation test</a></span></li><li><span class="TLline"><a href="/medgen/1864009" ref="tree=MeSH" title="MedGen record for Diminished prolactin response to thyrotrophin-releasing hormone stimulation">Diminished prolactin response to thyrotrophin-releasing hormone stimulation</a></span></li><li><span class="TLline"><a href="/medgen/1759429" ref="tree=MeSH" title="MedGen record for Reduced TSH response to thyrotrophin-releasing hormone stimulation test">Reduced TSH response to thyrotrophin-releasing hormone stimulation test</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867191" ref="tree=MeSH" title="MedGen record for Euthyroid hyperthyroxinemia">Euthyroid hyperthyroxinemia</a></span></li><li><span class="TLline"><a href="/medgen/1654700" ref="tree=MeSH" title="MedGen record for Generalized resistance to thyroid hormone">Generalized resistance to thyroid hormone</a></span></li><li><span class="TLline"><a href="/medgen/6972" ref="tree=MeSH" title="MedGen record for Hyperthyroidism">Hyperthyroidism</a></span><ul><li><span class="TLline"><a href="/medgen/1384625" ref="tree=MeSH" title="MedGen record for Acquired Hyperthyroidism">Acquired Hyperthyroidism</a></span></li><li><span class="TLline"><a href="/medgen/823901" ref="tree=MeSH" title="MedGen record for Central Hyperthyroidism">Central Hyperthyroidism</a></span></li><li><span class="TLline"><a href="/medgen/1393085" ref="tree=MeSH" title="MedGen record for Congenital Hyperthyroidism">Congenital Hyperthyroidism</a></span></li><li><span class="TLline"><a href="/medgen/6677" ref="tree=MeSH" title="MedGen record for Graves disease">Graves disease</a></span><ul><li><span class="TLline"><a href="/medgen/543546" ref="tree=MeSH" title="MedGen record for Neonatal Graves disease">Neonatal Graves disease</a></span></li><li><span class="TLline"><a href="/medgen/83281" ref="tree=MeSH" title="MedGen record for Thyroid eye disease">Thyroid eye disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/90974" ref="tree=MeSH" title="MedGen record for Hyperthyroxinemia, familial dysalbuminemic">Hyperthyroxinemia, familial dysalbuminemic</a></span></li><li><span class="TLline"><a href="/medgen/574850" ref="tree=MeSH" title="MedGen record for Iodine-induced hyperthyroidism">Iodine-induced hyperthyroidism</a></span></li><li><span class="TLline"><a href="/medgen/137963" ref="tree=MeSH" title="MedGen record for Plummer disease">Plummer disease</a></span></li><li><span class="TLline"><a href="/medgen/811409" ref="tree=MeSH" title="MedGen record for Primary Hyperthyroidism">Primary Hyperthyroidism</a></span><ul><li><span class="TLline"><a href="/medgen/1388665" ref="tree=MeSH" title="MedGen record for Transient Primary Hypothyroidism">Transient Primary Hypothyroidism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/11813" ref="tree=MeSH" title="MedGen record for Thyroid crisis">Thyroid crisis</a></span></li><li><span class="TLline"><a href="/medgen/11814" ref="tree=MeSH" title="MedGen record for Thyrotoxicosis">Thyrotoxicosis</a></span><ul><li><span class="TLline"><a href="/medgen/574837" ref="tree=MeSH" title="MedGen record for Hyperthyroidism with Hashimoto disease">Hyperthyroidism with Hashimoto disease</a></span></li><li><span class="TLline"><a href="/medgen/510684" ref="tree=MeSH" title="MedGen record for Neonatal thyrotoxicosis">Neonatal thyrotoxicosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/488788" ref="tree=MeSH" title="MedGen record for Thyrotoxicosis from ectopic thyroid tissue">Thyrotoxicosis from ectopic thyroid tissue</a></span></li><li><span class="TLline"><a href="/medgen/488851" ref="tree=MeSH" title="MedGen record for Thyrotoxicosis with diffuse goiter">Thyrotoxicosis with diffuse goiter</a></span></li><li><span class="TLline"><a href="/medgen/488787" ref="tree=MeSH" title="MedGen record for Thyrotoxicosis with toxic multinodular goiter">Thyrotoxicosis with toxic multinodular goiter</a></span></li><li><span class="TLline"><a href="/medgen/488786" ref="tree=MeSH" title="MedGen record for Thyrotoxicosis with toxic single thyroid nodule">Thyrotoxicosis with toxic single thyroid nodule</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6991" ref="tree=MeSH" title="MedGen record for Hypothyroidism">Hypothyroidism</a></span><ul><li><span class="TLline"><a href="/medgen/152162" ref="tree=MeSH" title="MedGen record for Acquired hypothyroidism">Acquired hypothyroidism</a></span></li><li><span class="TLline"><a href="/medgen/488836" ref="tree=MeSH" title="MedGen record for Central hypothyroidism">Central hypothyroidism</a></span><ul><li><span class="TLline"><a href="/medgen/889519" ref="tree=MeSH" title="MedGen record for Acquired central hypothyroidism">Acquired central hypothyroidism</a></span></li><li><span class="TLline"><a href="/medgen/113137" ref="tree=MeSH" title="MedGen record for Hypothalamic hypothyroidism">Hypothalamic hypothyroidism</a></span></li><li><span class="TLline"><a href="/medgen/1385306" ref="tree=MeSH" title="MedGen record for Iatrogenic Central Hypothyroidism">Iatrogenic Central Hypothyroidism</a></span></li><li><span class="TLline"><a href="/medgen/777086" ref="tree=MeSH" title="MedGen record for Pituitary hypothyroidism">Pituitary hypothyroidism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/473011" ref="tree=MeSH" title="MedGen record for Compensated hypothyroidism">Compensated hypothyroidism</a></span></li><li><span class="TLline"><a href="/medgen/41344" ref="tree=MeSH" title="MedGen record for Congenital hypothyroidism">Congenital hypothyroidism</a></span><ul><li><span class="TLline"><a href="/medgen/90972" ref="tree=MeSH" title="MedGen record for Congenital hypothyroidism with ectopic thyroid">Congenital hypothyroidism with ectopic thyroid</a></span></li><li><span class="TLline"><a href="/medgen/760558" ref="tree=MeSH" title="MedGen record for Congenital iodine deficiency syndrome">Congenital iodine deficiency syndrome</a></span></li><li><span class="TLline"><a href="/medgen/226940" ref="tree=MeSH" title="MedGen record for Deficiency of iodide peroxidase">Deficiency of iodide peroxidase</a></span></li><li><span class="TLline"><a href="/medgen/887085" ref="tree=MeSH" title="MedGen record for Dual Oxidase 2 Deficiency">Dual Oxidase 2 Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1670118" ref="tree=MeSH" title="MedGen record for Genetic transient congenital hypothyroidism">Genetic transient congenital hypothyroidism</a></span></li><li><span class="TLline"><a href="/medgen/124412" ref="tree=MeSH" title="MedGen record for Hypothyroidism due to iodide transport defect">Hypothyroidism due to iodide transport defect</a></span></li><li><span class="TLline"><a href="/medgen/487729" ref="tree=MeSH" title="MedGen record for Hypothyroidism due to TSH receptor mutations">Hypothyroidism due to TSH receptor mutations</a></span></li><li><span class="TLline"><a href="/medgen/358389" ref="tree=MeSH" title="MedGen record for Hypothyroidism, congenital, nongoitrous, 2">Hypothyroidism, congenital, nongoitrous, 2</a></span></li><li><span class="TLline"><a href="/medgen/87429" ref="tree=MeSH" title="MedGen record for Iodotyrosine deiodination defect">Iodotyrosine deiodination defect</a></span></li><li><span class="TLline"><a href="/medgen/78786" ref="tree=MeSH" title="MedGen record for Isolated thyroid-stimulating hormone deficiency">Isolated thyroid-stimulating hormone deficiency</a></span></li><li><span class="TLline"><a href="/medgen/82890" ref="tree=MeSH" title="MedGen record for Pendred syndrome">Pendred syndrome</a></span></li><li><span class="TLline"><a href="/medgen/883095" ref="tree=MeSH" title="MedGen record for Thyroglobulin Deficiency">Thyroglobulin Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/574883" ref="tree=MeSH" title="MedGen record for Thyroid dyshormonogenesis">Thyroid dyshormonogenesis</a></span></li><li><span class="TLline"><a href="/medgen/375935" ref="tree=MeSH" title="MedGen record for Thyroid dyshormonogenesis 6">Thyroid dyshormonogenesis 6</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1374319" ref="tree=MeSH" title="MedGen record for Iodine Deficiency Hypothyroidism">Iodine Deficiency Hypothyroidism</a></span></li><li><span class="TLline"><a href="/medgen/6506" ref="tree=MeSH" title="MedGen record for Myxedema">Myxedema</a></span></li><li><span class="TLline"><a href="/medgen/1389835" ref="tree=MeSH" title="MedGen record for Primary hypothyroidism">Primary hypothyroidism</a></span><ul><li><span class="TLline"><a href="/medgen/1373471" ref="tree=MeSH" title="MedGen record for Iatrogenic Primary Hypothyroidism">Iatrogenic Primary Hypothyroidism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/578778" ref="tree=MeSH" title="MedGen record for Transient hypothyroxinemia">Transient hypothyroxinemia</a></span></li><li><span class="TLline"><a href="/medgen/1377518" ref="tree=MeSH" title="MedGen record for Wolff-Chaikoff Phenomenon">Wolff-Chaikoff Phenomenon</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868784" ref="tree=MeSH" title="MedGen record for Impaired sensitivity to thyroid stimulating hormone">Impaired sensitivity to thyroid stimulating hormone</a></span><ul><li><span class="TLline"><a href="/medgen/868783" ref="tree=MeSH" title="MedGen record for Activating thyroid-stimulating hormone receptor defect">Activating thyroid-stimulating hormone receptor defect</a></span></li><li><span class="TLline"><a href="/medgen/868782" ref="tree=MeSH" title="MedGen record for Inactivating thyroid-stimulating hormone receptor defect">Inactivating thyroid-stimulating hormone receptor defect</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1378215" ref="tree=MeSH" title="MedGen record for Positive perchlorate discharge test">Positive perchlorate discharge test</a></span></li><li><span class="TLline"><a href="/medgen/336419" ref="tree=MeSH" title="MedGen record for Thyroid defect in oxidation and organification of iodide">Thyroid defect in oxidation and organification of iodide</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_816188"><div><strong>Testicular anomalies with or without congenital heart disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816188</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.">C3809858</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816188">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_899839"><div><strong>Intellectual disability, X-linked 99, syndromic, female-restricted</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>899839</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.">C4225416</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Female-restricted X-linked syndromic intellectual developmental disorder-99 (MRXS99F) is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development and mild to moderate intellectual disability. Affected females can have a wide range of additional congenital anomalies, including scoliosis, postaxial polydactyly, mild cardiac or urogenital anomalies, dysmorphic facial features, and mild structural brain abnormalities (summary by Reijnders et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/899839">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_899839" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, X-linked 99, syndromic, female-restricted</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816188" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Testicular anomalies with or without congenital heart disease</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34416120">Contemporary Management of Thyroid Nodules.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kobaly K,
|
||
Kim CS,
|
||
Mandel SJ</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Med</span>
|
||
2022 Jan 27;73:517-528.
|
||
Epub 2021 Aug 20
|
||
doi: 10.1146/annurev-med-042220-015032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34416120" target="_blank">34416120</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31939642">Muscle Weakness in Adults: Evaluation and Differential Diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Larson ST,
|
||
Wilbur J</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2020 Jan 15;101(2):95-108.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31939642" target="_blank">31939642</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27717596">Inositol as putative integrative treatment for PCOS.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Genazzani AD</span><br />
|
||
<span class="medgenPMjournal">Reprod Biomed Online</span>
|
||
2016 Dec;33(6):770-780.
|
||
Epub 2016 Sep 16
|
||
doi: 10.1016/j.rbmo.2016.08.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27717596" target="_blank">27717596</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormality%20of%20thyroid%20physiology)%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 (364)</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/32445737">Association of maternal thyroid function with birthweight: a systematic review and individual-participant data meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Derakhshan A,
|
||
Peeters RP,
|
||
Taylor PN,
|
||
Bliddal S,
|
||
Carty DM,
|
||
Meems M,
|
||
Vaidya B,
|
||
Chen L,
|
||
Knight BA,
|
||
Ghafoor F,
|
||
Popova PV,
|
||
Mosso L,
|
||
Oken E,
|
||
Suvanto E,
|
||
Hisada A,
|
||
Yoshinaga J,
|
||
Brown SJ,
|
||
Bassols J,
|
||
Auvinen J,
|
||
Bramer WM,
|
||
López-Bermejo A,
|
||
Dayan CM,
|
||
French R,
|
||
Boucai L,
|
||
Vafeiadi M,
|
||
Grineva EN,
|
||
Pop VJM,
|
||
Vrijkotte TG,
|
||
Chatzi L,
|
||
Sunyer J,
|
||
Jiménez-Zabala A,
|
||
Riaño I,
|
||
Rebagliato M,
|
||
Lu X,
|
||
Pirzada A,
|
||
Männistö T,
|
||
Delles C,
|
||
Feldt-Rasmussen U,
|
||
Alexander EK,
|
||
Nelson SM,
|
||
Chaker L,
|
||
Pearce EN,
|
||
Guxens M,
|
||
Steegers EAP,
|
||
Walsh JP,
|
||
Korevaar TIM</span><br />
|
||
<span class="medgenPMjournal">Lancet Diabetes Endocrinol</span>
|
||
2020 Jun;8(6):501-510.
|
||
doi: 10.1016/S2213-8587(20)30061-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32445737" target="_blank">32445737</a><a href="/pmc/articles/PMC8168324" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32166702">The interplay between thyroid and liver: implications for clinical practice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Piantanida E,
|
||
Ippolito S,
|
||
Gallo D,
|
||
Masiello E,
|
||
Premoli P,
|
||
Cusini C,
|
||
Rosetti S,
|
||
Sabatino J,
|
||
Segato S,
|
||
Trimarchi F,
|
||
Bartalena L,
|
||
Tanda ML</span><br />
|
||
<span class="medgenPMjournal">J Endocrinol Invest</span>
|
||
2020 Jul;43(7):885-899.
|
||
Epub 2020 Mar 12
|
||
doi: 10.1007/s40618-020-01208-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32166702" target="_blank">32166702</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31406343">Interconnection between circadian clocks and thyroid function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ikegami K,
|
||
Refetoff S,
|
||
Van Cauter E,
|
||
Yoshimura T</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
|
||
2019 Oct;15(10):590-600.
|
||
Epub 2019 Aug 12
|
||
doi: 10.1038/s41574-019-0237-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31406343" target="_blank">31406343</a><a href="/pmc/articles/PMC7288350" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29405999">Congenital Hypothyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wassner AJ</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2018 Mar;45(1):1-18.
|
||
doi: 10.1016/j.clp.2017.10.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29405999" target="_blank">29405999</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24629859">Fetal thyroïdology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Polak M,
|
||
Luton D</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
|
||
2014 Mar;28(2):161-73.
|
||
Epub 2013 Jun 6
|
||
doi: 10.1016/j.beem.2013.04.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24629859" target="_blank">24629859</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20thyroid%20physiology%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 (3311)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31406343">Interconnection between circadian clocks and thyroid function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ikegami K,
|
||
Refetoff S,
|
||
Van Cauter E,
|
||
Yoshimura T</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
|
||
2019 Oct;15(10):590-600.
|
||
Epub 2019 Aug 12
|
||
doi: 10.1038/s41574-019-0237-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31406343" target="_blank">31406343</a><a href="/pmc/articles/PMC7288350" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29405999">Congenital Hypothyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wassner AJ</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2018 Mar;45(1):1-18.
|
||
doi: 10.1016/j.clp.2017.10.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29405999" target="_blank">29405999</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28816538">THYROID AND AGING.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jasim S,
|
||
Gharib H</span><br />
|
||
<span class="medgenPMjournal">Endocr Pract</span>
|
||
2018 Apr;24(4):369-374.
|
||
Epub 2017 Aug 17
|
||
doi: 10.4158/EP171796.RA.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28816538" target="_blank">28816538</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24629859">Fetal thyroïdology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Polak M,
|
||
Luton D</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
|
||
2014 Mar;28(2):161-73.
|
||
Epub 2013 Jun 6
|
||
doi: 10.1016/j.beem.2013.04.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24629859" target="_blank">24629859</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3543368">Noonan syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Allanson JE</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1987 Jan;24(1):9-13.
|
||
doi: 10.1136/jmg.24.1.9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3543368" target="_blank">3543368</a><a href="/pmc/articles/PMC1049850" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20thyroid%20physiology%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 (3255)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/32166702">The interplay between thyroid and liver: implications for clinical practice.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Piantanida E,
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Ippolito S,
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Gallo D,
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Masiello E,
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Premoli P,
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Cusini C,
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Rosetti S,
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Sabatino J,
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<span class="bold">PMID: </span><a href="/pubmed/32166702" target="_blank">32166702</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31903865">Thyroid and Fertility: Recent Advances.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dosiou C</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/29405999">Congenital Hypothyroidism.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Triggiani V,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20thyroid%20physiology%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 (2072)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/32425884">DUOX2 and DUOXA2 Variants Confer Susceptibility to Thyroid Dysgenesis and Gland-in-situ With Congenital Hypothyroidism.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29405999">Congenital Hypothyroidism.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wassner AJ</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/28648504">Disorders of thyroid morphogenesis.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/22570946">Congenital hypothyroidism.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/16444160">Hashimoto's Thyroiditis.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20thyroid%20physiology%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 (1597)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/32166702">The interplay between thyroid and liver: implications for clinical practice.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Piantanida E,
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Ippolito S,
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Gallo D,
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Masiello E,
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Premoli P,
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Cusini C,
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Rosetti S,
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Sabatino J,
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Segato S,
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Trimarchi F,
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Bartalena L,
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Tanda ML</span><br />
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2020 Jul;43(7):885-899.
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Epub 2020 Mar 12
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<span class="bold">PMID: </span><a href="/pubmed/32166702" target="_blank">32166702</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30616423">Frequency and outcomes of maternal thyroid function abnormalities in early pregnancy.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/16444160">Hashimoto's Thyroiditis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lorini R,
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Gastaldi R,
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Traggiai C,
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Perucchin PP</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20thyroid%20physiology%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 (2224)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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<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>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/37232505">Association between genetically determined telomere length and health-related outcomes: A systematic review and meta-analysis of Mendelian randomization studies.</a></div>
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Yan Y,
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<div class="nl"><a target="_blank" href="/pubmed/34339416">Menopausal hormone therapy and women's health: An umbrella review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zhang GQ,
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Chen JL,
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Luo Y,
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Mathur MB,
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Anagnostis P,
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Talibov M,
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Zhang J,
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Hawrylowicz CM,
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Critchley H,
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<div class="nl"><a target="_blank" href="/pubmed/32445737">Association of maternal thyroid function with birthweight: a systematic review and individual-participant data meta-analysis.</a></div>
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Peeters RP,
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Taylor PN,
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Bliddal S,
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Chen L,
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Knight BA,
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Popova PV,
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Suvanto E,
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Hisada A,
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Brown SJ,
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Bassols J,
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Bramer WM,
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López-Bermejo A,
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Dayan CM,
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French R,
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Boucai L,
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Vafeiadi M,
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Grineva EN,
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Pop VJM,
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Vrijkotte TG,
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Chatzi L,
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Sunyer J,
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Jiménez-Zabala A,
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Riaño I,
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Rebagliato M,
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Lu X,
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Pirzada A,
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Männistö T,
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Delles C,
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Feldt-Rasmussen U,
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Alexander EK,
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Nelson SM,
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Chaker L,
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Pearce EN,
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Guxens M,
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Steegers EAP,
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<div class="nl"><a target="_blank" href="/pubmed/31429897">Association of Thyroid Function Test Abnormalities and Thyroid Autoimmunity With Preterm Birth: A Systematic Review and Meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Consortium on Thyroid and Pregnancy—Study Group on Preterm Birth,
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Korevaar TIM,
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Derakhshan A,
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Taylor PN,
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Meima M,
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Chen L,
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Bliddal S,
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Carty DM,
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Meems M,
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Vaidya B,
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Shields B,
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Ghafoor F,
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Popova PV,
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Mosso L,
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Oken E,
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Suvanto E,
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Hisada A,
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Yoshinaga J,
|
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Brown SJ,
|
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Bassols J,
|
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Auvinen J,
|
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Bramer WM,
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López-Bermejo A,
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Dayan C,
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Boucai L,
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Vafeiadi M,
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Grineva EN,
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Tkachuck AS,
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Pop VJM,
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Vrijkotte TG,
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Guxens M,
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Chatzi L,
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Sunyer J,
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Jiménez-Zabala A,
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Riaño I,
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Murcia M,
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Lu X,
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Mukhtar S,
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Delles C,
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Feldt-Rasmussen U,
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Nelson SM,
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Alexander EK,
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Chaker L,
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Männistö T,
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Walsh JP,
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Pearce EN,
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<div class="nl"><a target="_blank" href="/pubmed/31260048">The association between endometriosis and autoimmune diseases: a systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Shigesi N,
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Kvaskoff M,
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<span class="bold">PMID: </span><a href="/pubmed/31260048" target="_blank">31260048</a><a href="/pmc/articles/PMC6601386" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20thyroid%20physiology%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 (48)</a></div></div>
|
||
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|
||
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Abnormality%20of%20thyroid%20physiology" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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