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<!--
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UID=893021
|
||
ConceptID=C4025823
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of the endocrine system</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>893021</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.">C4025823</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Endocrine system disease</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:0000818">HP:0000818</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">An abnormality of the endocrine system. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4025823[DISCUI]&test_type=Clinical" ref="ncbi_uid=893021">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Abnormality of the endocrine system</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="matched_ds">Abnormality of the endocrine system</span><ul><li><span class="TLline"><a href="/medgen/871176" ref="tree=MeSH" title="MedGen record for Abnormal circulating hormone concentration">Abnormal circulating hormone concentration</a></span><ul><li><span class="TLline"><a href="/medgen/892755" ref="tree=MeSH" title="MedGen record for Abnormal adiponectin level">Abnormal adiponectin level</a></span><ul><li><span class="TLline"><a href="/medgen/892903" ref="tree=MeSH" title="MedGen record for Decreased adiponectin level">Decreased adiponectin level</a></span></li><li><span class="TLline"><a href="/medgen/892601" ref="tree=MeSH" title="MedGen record for Increased adiponectin level">Increased adiponectin level</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869154" ref="tree=MeSH" title="MedGen record for Abnormal circulating adrenocorticotropin concentration">Abnormal circulating adrenocorticotropin concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1841520" ref="tree=MeSH" title="MedGen record for Decreased circulating ACTH concentration">Decreased circulating ACTH concentration</a></span></li><li><span class="TLline"><a href="/medgen/867375" ref="tree=MeSH" title="MedGen record for Increased circulating ACTH level">Increased circulating ACTH level</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1393783" ref="tree=MeSH" title="MedGen record for Abnormal circulating antimullerian hormone concentration">Abnormal circulating antimullerian hormone concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1391876" ref="tree=MeSH" title="MedGen record for Decreased circulating antimullerian hormone circulation">Decreased circulating antimullerian hormone circulation</a></span></li><li><span class="TLline"><a href="/medgen/1384754" ref="tree=MeSH" title="MedGen record for Increased circulating antimullerian hormone concentration">Increased circulating antimullerian hormone concentration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1841862" ref="tree=MeSH" title="MedGen record for Abnormal circulating erythropoietin concentration">Abnormal circulating erythropoietin concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1784401" ref="tree=MeSH" title="MedGen record for Elevated circulating erythropoietin concentration">Elevated circulating erythropoietin concentration</a></span></li><li><span class="TLline"><a href="/medgen/1053730" ref="tree=MeSH" title="MedGen record for Inappropriate normal or low erythropoietin">Inappropriate normal or low erythropoietin</a></span></li><li><span class="TLline"><a href="/medgen/1841857" ref="tree=MeSH" title="MedGen record for Reduced circulating erythropoietin concentration">Reduced circulating erythropoietin concentration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1864419" ref="tree=MeSH" title="MedGen record for Abnormal circulating fibroblast growth factor 23 concentration">Abnormal circulating fibroblast growth factor 23 concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1863456" ref="tree=MeSH" title="MedGen record for Elevated circulating C-terminal fibroblast growth factor 23 concentration">Elevated circulating C-terminal fibroblast growth factor 23 concentration</a></span></li><li><span class="TLline"><a href="/medgen/1863638" ref="tree=MeSH" title="MedGen record for Elevated circulating fibroblast growth factor 23 concentration">Elevated circulating fibroblast growth factor 23 concentration</a></span></li><li><span class="TLline"><a href="/medgen/1863502" ref="tree=MeSH" title="MedGen record for Reduced circulating fibroblast growth factor 23 concentration">Reduced circulating fibroblast growth factor 23 concentration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1685975" ref="tree=MeSH" title="MedGen record for Abnormal circulating gastrin concentration">Abnormal circulating gastrin concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1674418" ref="tree=MeSH" title="MedGen record for Hypergastrinemia">Hypergastrinemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892748" ref="tree=MeSH" title="MedGen record for Abnormal circulating gonadotropin concentration">Abnormal circulating gonadotropin concentration</a></span><ul><li><span class="TLline"><a href="/medgen/892827" ref="tree=MeSH" title="MedGen record for Abnormal circulating follicle-stimulating hormone concentration">Abnormal circulating follicle-stimulating hormone concentration</a></span></li><li><span class="TLline"><a href="/medgen/663319" ref="tree=MeSH" title="MedGen record for Abnormal circulating luteinizing hormone concentration">Abnormal circulating luteinizing hormone concentration</a></span></li><li><span class="TLline"><a href="/medgen/892842" ref="tree=MeSH" title="MedGen record for Decreased circulating gonadotropin concentration">Decreased circulating gonadotropin concentration</a></span></li><li><span class="TLline"><a href="/medgen/400008" ref="tree=MeSH" title="MedGen record for Increased circulating gonadotropin level">Increased circulating gonadotropin level</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1378339" ref="tree=MeSH" title="MedGen record for Abnormal circulating inhibin level">Abnormal circulating inhibin level</a></span><ul><li><span class="TLline"><a href="/medgen/1864203" ref="tree=MeSH" title="MedGen record for Abnormal circulating inhibin B concentration">Abnormal circulating inhibin B concentration</a></span></li><li><span class="TLline"><a href="/medgen/1863844" ref="tree=MeSH" title="MedGen record for Elevated circulating inhibin A concentration">Elevated circulating inhibin A concentration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/893016" ref="tree=MeSH" title="MedGen record for Abnormal circulating insulin concentration">Abnormal circulating insulin concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1815107" ref="tree=MeSH" title="MedGen record for Elevated circulating insulin:C-peptide ratio">Elevated circulating insulin:C-peptide ratio</a></span></li><li><span class="TLline"><a href="/medgen/43779" ref="tree=MeSH" title="MedGen record for Hyperinsulinemia">Hyperinsulinemia</a></span></li><li><span class="TLline"><a 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level</a></span></li><li><span class="TLline"><a href="/medgen/1621520" ref="tree=MeSH" title="MedGen record for Increased circulating osteocalcin level">Increased circulating osteocalcin level</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1779099" ref="tree=MeSH" title="MedGen record for Abnormal circulating sex hormone concentration">Abnormal circulating sex hormone concentration</a></span><ul><li><span class="TLline"><a href="/medgen/892717" ref="tree=MeSH" title="MedGen record for Abnormal circulating androgen level">Abnormal circulating androgen level</a></span></li><li><span class="TLline"><a href="/medgen/1369064" ref="tree=MeSH" title="MedGen record for Abnormal circulating estrogen level">Abnormal circulating estrogen level</a></span></li><li><span class="TLline"><a href="/medgen/1373677" ref="tree=MeSH" title="MedGen record for Abnormal circulating pregnenolone concentration">Abnormal circulating pregnenolone concentration</a></span></li><li><span class="TLline"><a href="/medgen/1622440" ref="tree=MeSH" title="MedGen record for Abnormal circulating progesterone level">Abnormal circulating progesterone level</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1623921" ref="tree=MeSH" title="MedGen record for Abnormal circulating thyroid hormone concentration">Abnormal circulating thyroid hormone concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1689152" ref="tree=MeSH" title="MedGen record for Abnormal circulating free T3 concentration">Abnormal circulating free T3 concentration</a></span></li><li><span class="TLline"><a href="/medgen/1732628" ref="tree=MeSH" title="MedGen record for Abnormal circulating free T4 concentration">Abnormal circulating free T4 concentration</a></span></li><li><span class="TLline"><a href="/medgen/1613028" ref="tree=MeSH" title="MedGen record for Abnormal circulating T4 concentration">Abnormal circulating T4 concentration</a></span></li><li><span class="TLline"><a href="/medgen/868453" ref="tree=MeSH" title="MedGen record for Abnormal T3/T4 ratio">Abnormal T3/T4 ratio</a></span></li><li><span class="TLline"><a href="/medgen/1815050" ref="tree=MeSH" title="MedGen record for Elevated circulating reverse T3 concentration">Elevated circulating reverse T3 concentration</a></span></li><li><span class="TLline"><a href="/medgen/1815051" ref="tree=MeSH" title="MedGen record for Elevated circulating rT3/T3 ratio">Elevated circulating rT3/T3 ratio</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892507" ref="tree=MeSH" title="MedGen record for Abnormal glucagon level">Abnormal glucagon level</a></span><ul><li><span class="TLline"><a href="/medgen/717777" ref="tree=MeSH" title="MedGen record for Decreased glucagon level">Decreased glucagon level</a></span></li><li><span class="TLline"><a href="/medgen/717776" ref="tree=MeSH" title="MedGen record for Increased glucagon level">Increased glucagon level</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1389720" ref="tree=MeSH" title="MedGen record for Abnormal gonadotropin-releasing hormone concentration">Abnormal gonadotropin-releasing hormone concentration</a></span><ul><li><span class="TLline"><a href="/medgen/871170" ref="tree=MeSH" title="MedGen record for Hypothalamic gonadotropin-releasing hormone deficiency">Hypothalamic gonadotropin-releasing hormone deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1392189" ref="tree=MeSH" title="MedGen record for Lack of gonadotropin-releasing hormone pulsatility">Lack of gonadotropin-releasing hormone pulsatility</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1703240" ref="tree=MeSH" title="MedGen record for Abnormal growth hormone level">Abnormal growth hormone level</a></span><ul><li><span class="TLline"><a href="/medgen/66732" ref="tree=MeSH" title="MedGen record for Elevated circulating growth hormone concentration">Elevated circulating growth hormone concentration</a></span></li><li><span class="TLline"><a href="/medgen/82880" ref="tree=MeSH" title="MedGen record for Reduced circulating growth hormone concentration">Reduced circulating growth hormone concentration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1699529" ref="tree=MeSH" title="MedGen record for Abnormal pituitary glycoprotein hormone alpha subunit level">Abnormal pituitary glycoprotein hormone alpha subunit level</a></span><ul><li><span class="TLline"><a href="/medgen/1704144" ref="tree=MeSH" title="MedGen record for Decreased pituitary glycoprotein hormone alpha subunit level">Decreased pituitary glycoprotein hormone alpha subunit level</a></span></li><li><span class="TLline"><a href="/medgen/1621465" ref="tree=MeSH" title="MedGen record for Increased pituitary glycoprotein hormone alpha subunit level">Increased pituitary glycoprotein hormone alpha subunit level</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892647" ref="tree=MeSH" title="MedGen record for Abnormal serum insulin-like growth factor 1 level">Abnormal serum insulin-like growth factor 1 level</a></span><ul><li><span class="TLline"><a href="/medgen/892792" ref="tree=MeSH" title="MedGen record for Decreased serum insulin-like growth factor 1">Decreased serum insulin-like growth factor 1</a></span></li><li><span class="TLline"><a href="/medgen/390982" ref="tree=MeSH" title="MedGen record for Increased circulating insulin-like growth factor 1 concentration">Increased circulating insulin-like growth factor 1 concentration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1384219" ref="tree=MeSH" title="MedGen record for Abnormal thyroid-stimulating hormone level">Abnormal thyroid-stimulating hormone level</a></span><ul><li><span class="TLline"><a href="/medgen/717708" ref="tree=MeSH" title="MedGen record for Decreased thyroid-stimulating hormone level">Decreased thyroid-stimulating hormone level</a></span></li><li><span class="TLline"><a href="/medgen/108325" ref="tree=MeSH" title="MedGen record for Elevated circulating thyroid-stimulating hormone concentration">Elevated circulating thyroid-stimulating hormone concentration</a></span></li><li><span class="TLline"><a href="/medgen/1691608" ref="tree=MeSH" title="MedGen record for Inappropriately normal thyroid-stimulating hormone level">Inappropriately normal thyroid-stimulating hormone level</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/866752" ref="tree=MeSH" title="MedGen record for Abnormality of circulating catecholamine level">Abnormality of circulating catecholamine level</a></span><ul><li><span class="TLline"><a href="/medgen/1864001" ref="tree=MeSH" title="MedGen record for Decreased circulating catecholamine concentration">Decreased circulating catecholamine concentration</a></span></li><li><span class="TLline"><a href="/medgen/871156" ref="tree=MeSH" title="MedGen record for Elevated circulating catecholamine level">Elevated circulating catecholamine level</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868638" ref="tree=MeSH" title="MedGen record for Abnormality of circulating glucocorticoid level">Abnormality of circulating glucocorticoid level</a></span><ul><li><span class="TLline"><a href="/medgen/868637" ref="tree=MeSH" title="MedGen record for Abnormal circulating corticosterone level">Abnormal circulating corticosterone level</a></span></li><li><span class="TLline"><a href="/medgen/868804" ref="tree=MeSH" title="MedGen record for Abnormality of circulating cortisol level">Abnormality of circulating cortisol level</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1841875" ref="tree=MeSH" title="MedGen record for Decreased circulating antidiuretic hormone concentration">Decreased circulating antidiuretic hormone concentration</a></span></li><li><span class="TLline"><a href="/medgen/1842158" ref="tree=MeSH" title="MedGen record for Decreased circulating epinephrine concentration">Decreased circulating epinephrine concentration</a></span></li><li><span class="TLline"><a href="/medgen/1841642" ref="tree=MeSH" title="MedGen record for Decreased circulating metanephrine concentration">Decreased circulating metanephrine concentration</a></span></li><li><span class="TLline"><a href="/medgen/1842065" ref="tree=MeSH" title="MedGen record for Decreased circulating norepinephrine concentration">Decreased circulating norepinephrine concentration</a></span></li><li><span class="TLline"><a href="/medgen/1864120" ref="tree=MeSH" title="MedGen record for Decreased circulating thrombopoietin concentration">Decreased circulating thrombopoietin concentration</a></span></li><li><span class="TLline"><a href="/medgen/1841636" ref="tree=MeSH" title="MedGen record for Decreased circulating thyrotropin releasing hormone concentration">Decreased circulating thyrotropin releasing hormone concentration</a></span></li><li><span class="TLline"><a href="/medgen/1864079" ref="tree=MeSH" title="MedGen record for Elevated circulating ghrelin concentration">Elevated circulating ghrelin concentration</a></span></li><li><span class="TLline"><a href="/medgen/1842063" ref="tree=MeSH" title="MedGen record for Elevated circulating growth hormone-releasing hormone concentration">Elevated circulating growth hormone-releasing hormone concentration</a></span></li><li><span class="TLline"><a href="/medgen/1864028" ref="tree=MeSH" title="MedGen record for Elevated circulating proinsulin concentration">Elevated circulating proinsulin concentration</a></span></li><li><span class="TLline"><a href="/medgen/1841753" ref="tree=MeSH" title="MedGen record for Elevated circulating thrombopoietin concentration">Elevated circulating thrombopoietin concentration</a></span></li><li><span class="TLline"><a href="/medgen/1863584" ref="tree=MeSH" title="MedGen record for Elevated circulating vasoactive intestinal peptide concentration">Elevated circulating vasoactive intestinal peptide concentration</a></span></li><li><span class="TLline"><a href="/medgen/1385967" ref="tree=MeSH" title="MedGen record for Elevated vascular endothelial growth factor level">Elevated vascular endothelial growth factor level</a></span></li><li><span class="TLline"><a href="/medgen/488950" ref="tree=MeSH" title="MedGen record for Increased serum serotonin">Increased serum serotonin</a></span></li><li><span class="TLline"><a href="/medgen/1863838" ref="tree=MeSH" title="MedGen record for Reduced circulating insulin-like growth factor 2 concentration">Reduced circulating insulin-like growth factor 2 concentration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1376980" ref="tree=MeSH" title="MedGen record for Abnormal endocrine morphology">Abnormal endocrine morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868803" ref="tree=MeSH" title="MedGen record for Abnormal adrenal morphology">Abnormal adrenal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/78785" ref="tree=MeSH" title="MedGen record for Adrenal calcification">Adrenal calcification</a></span></li><li><span class="TLline"><a href="/medgen/1842121" ref="tree=MeSH" title="MedGen record for Adrenal cortical sclerosis">Adrenal cortical sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/383820" ref="tree=MeSH" title="MedGen record for Adrenal gland dysgenesis">Adrenal gland dysgenesis</a></span></li><li><span class="TLline"><a href="/medgen/301220" ref="tree=MeSH" title="MedGen record for Adrenal hyperplasia">Adrenal hyperplasia</a></span></li><li><span class="TLline"><a href="/medgen/337539" ref="tree=MeSH" title="MedGen record for Adrenal hypoplasia">Adrenal hypoplasia</a></span></li><li><span class="TLline"><a href="/medgen/83344" ref="tree=MeSH" title="MedGen record for Adrenal mass">Adrenal mass</a></span></li><li><span class="TLline"><a href="/medgen/1841796" ref="tree=MeSH" title="MedGen record for Adrenal xanthomatosis">Adrenal xanthomatosis</a></span></li><li><span class="TLline"><a href="/medgen/871332" ref="tree=MeSH" title="MedGen record for Adrenocortical abnormality">Adrenocortical abnormality</a></span></li><li><span class="TLline"><a href="/medgen/342072" ref="tree=MeSH" title="MedGen record for Adrenocortical cytomegaly">Adrenocortical cytomegaly</a></span></li><li><span class="TLline"><a href="/medgen/1056850" ref="tree=MeSH" title="MedGen record for Discoid adrenal gland">Discoid adrenal gland</a></span></li><li><span class="TLline"><a href="/medgen/488825" ref="tree=MeSH" title="MedGen record for Ectopic adrenal gland">Ectopic adrenal gland</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1384914" ref="tree=MeSH" title="MedGen record for Abnormal endocrine physiology">Abnormal endocrine physiology</a></span><ul><li><span class="TLline"><a href="/medgen/1392082" ref="tree=MeSH" title="MedGen record for Abnormal response to endocrine stimulation test">Abnormal response to endocrine stimulation test</a></span><ul><li><span class="TLline"><a href="/medgen/1392823" ref="tree=MeSH" title="MedGen record for Abnormal response to ACTH stimulation test">Abnormal response to ACTH stimulation test</a></span></li><li><span class="TLline"><a href="/medgen/1384143" ref="tree=MeSH" title="MedGen record for Abnormal response to corticotropin releasing hormone stimulation test">Abnormal response to corticotropin releasing hormone stimulation test</a></span></li><li><span class="TLline"><a href="/medgen/1386594" ref="tree=MeSH" title="MedGen record for Abnormal response to glucagon stimulation test">Abnormal response to glucagon stimulation test</a></span></li><li><span class="TLline"><a href="/medgen/1621299" ref="tree=MeSH" title="MedGen record for Abnormal response to gonadotropin-releasing hormone stimulation test">Abnormal response to gonadotropin-releasing hormone stimulation test</a></span></li><li><span class="TLline"><a href="/medgen/1375972" ref="tree=MeSH" title="MedGen record for Abnormal response to human chorionic gonadotrophin stimulation test">Abnormal response to human chorionic gonadotrophin stimulation test</a></span></li><li><span class="TLline"><a href="/medgen/1391626" ref="tree=MeSH" title="MedGen record for Abnormal response to insulin tolerance test">Abnormal response to insulin tolerance test</a></span></li><li><span class="TLline"><a href="/medgen/1863824" ref="tree=MeSH" title="MedGen record for Blunted aldosterone response to aldosterone suppression test">Blunted aldosterone response to aldosterone suppression test</a></span></li><li><span class="TLline"><a href="/medgen/1784655" ref="tree=MeSH" title="MedGen record for Decreased response to growth hormone stimulation test">Decreased response to growth hormone stimulation test</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5772" ref="tree=MeSH" title="MedGen record for Inappropriate antidiuretic hormone secretion">Inappropriate antidiuretic hormone secretion</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868667" ref="tree=MeSH" title="MedGen record for Abnormal urine hormone level">Abnormal urine hormone level</a></span><ul><li><span class="TLline"><a href="/medgen/871135" ref="tree=MeSH" title="MedGen record for High urinary gonadotropin level">High urinary gonadotropin level</a></span></li><li><span class="TLline"><a href="/medgen/1697306" ref="tree=MeSH" title="MedGen record for Increased urinary 11-deoxycorticosterone level">Increased urinary 11-deoxycorticosterone level</a></span></li><li><span class="TLline"><a href="/medgen/1698442" ref="tree=MeSH" title="MedGen record for Increased urinary 11-deoxycortisol level">Increased urinary 11-deoxycortisol level</a></span></li><li><span class="TLline"><a href="/medgen/1706125" ref="tree=MeSH" title="MedGen record for Increased urinary 11-deoxytetrahydrocorticosterone level">Increased urinary 11-deoxytetrahydrocorticosterone level</a></span></li><li><span class="TLline"><a href="/medgen/868666" ref="tree=MeSH" title="MedGen record for Increased urinary cortisol level">Increased urinary cortisol level</a></span></li><li><span class="TLline"><a href="/medgen/1054488" ref="tree=MeSH" title="MedGen record for Reduced urine retrahydrocortisol plus 5-alpha-THF to tetrahydrocortisone ratio">Reduced urine retrahydrocortisol plus 5-alpha-THF to tetrahydrocortisone ratio</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867421" ref="tree=MeSH" title="MedGen record for Abnormality of renin-angiotensin system">Abnormality of renin-angiotensin system</a></span><ul><li><span class="TLline"><a href="/medgen/808216" ref="tree=MeSH" title="MedGen record for Abnormal circulating aldosterone concentration">Abnormal circulating aldosterone concentration</a></span><ul><li><span class="TLline"><a href="/medgen/208996" ref="tree=MeSH" title="MedGen record for Decreased circulating aldosterone concentration">Decreased circulating aldosterone concentration</a></span></li><li><span class="TLline"><a href="/medgen/6960" ref="tree=MeSH" title="MedGen record for Increased circulating aldosterone concentration">Increased circulating aldosterone concentration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/866691" ref="tree=MeSH" title="MedGen record for Abnormal circulating renin concentration">Abnormal circulating renin concentration</a></span><ul><li><span class="TLline"><a href="/medgen/337182" ref="tree=MeSH" title="MedGen record for Decreased circulating renin concentration">Decreased circulating renin concentration</a></span></li><li><span class="TLline"><a href="/medgen/66818" ref="tree=MeSH" title="MedGen record for Increased circulating renin concentration">Increased circulating renin concentration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1864103" ref="tree=MeSH" title="MedGen record for Elevated aldosterone:renin ratio">Elevated aldosterone:renin ratio</a></span></li><li><span class="TLline"><a href="/medgen/335401" ref="tree=MeSH" title="MedGen record for Hyperactive renin-angiotensin system">Hyperactive renin-angiotensin system</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892577" ref="tree=MeSH" title="MedGen record for Abnormality of the adrenal glands">Abnormality of the adrenal glands</a></span><ul><li><span class="TLline"><a href="/medgen/868802" ref="tree=MeSH" title="MedGen record for Abnormality of adrenal physiology">Abnormality of adrenal physiology</a></span><ul><li><span class="TLline"><a href="/medgen/1351" ref="tree=MeSH" title="MedGen record for Adrenal insufficiency">Adrenal insufficiency</a></span></li><li><span class="TLline"><a href="/medgen/871206" ref="tree=MeSH" title="MedGen record for Adrenal overactivity">Adrenal overactivity</a></span></li><li><span class="TLline"><a href="/medgen/18721" ref="tree=MeSH" title="MedGen record for Pseudohypoaldosteronism">Pseudohypoaldosteronism</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/871331" ref="tree=MeSH" title="MedGen record for Abnormality of the hypothalamus-pituitary axis">Abnormality of the hypothalamus-pituitary axis</a></span><ul><li><span class="TLline"><a href="/medgen/1841745" ref="tree=MeSH" title="MedGen record for Abnormal pituitary stalk morphology">Abnormal pituitary stalk morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1795565" ref="tree=MeSH" title="MedGen record for Absent pituitary stalk">Absent pituitary stalk</a></span></li><li><span class="TLline"><a href="/medgen/1841791" ref="tree=MeSH" title="MedGen record for Interrupted pituitary stalk">Interrupted pituitary stalk</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/893009" ref="tree=MeSH" title="MedGen record for Abnormality of the parathyroid gland">Abnormality of the parathyroid gland</a></span><ul><li><span class="TLline"><a href="/medgen/868794" ref="tree=MeSH" title="MedGen record for Abnormal parathyroid morphology">Abnormal parathyroid morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868792" ref="tree=MeSH" title="MedGen record for Parathyroid dysgenesis">Parathyroid dysgenesis</a></span></li><li><span class="TLline"><a href="/medgen/75767" ref="tree=MeSH" title="MedGen record for Parathyroid hyperplasia">Parathyroid hyperplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868793" ref="tree=MeSH" title="MedGen record for Abnormality of the parathyroid physiology">Abnormality of the parathyroid physiology</a></span><ul><li><span class="TLline"><a href="/medgen/6967" ref="tree=MeSH" title="MedGen record for Hyperparathyroidism">Hyperparathyroidism</a></span></li><li><span class="TLline"><a href="/medgen/6985" ref="tree=MeSH" title="MedGen record for Hypoparathyroidism">Hypoparathyroidism</a></span></li><li><span class="TLline"><a href="/medgen/46178" ref="tree=MeSH" title="MedGen record for Pseudohypoparathyroidism">Pseudohypoparathyroidism</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/868389" ref="tree=MeSH" title="MedGen record for Abnormality of the pineal gland">Abnormality of the pineal gland</a></span><ul><li><span class="TLline"><a href="/medgen/868388" ref="tree=MeSH" title="MedGen record for Abnormal pineal morphology">Abnormal pineal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868387" ref="tree=MeSH" title="MedGen record for Abnormal pineal volume">Abnormal pineal volume</a></span></li><li><span class="TLline"><a href="/medgen/765992" ref="tree=MeSH" title="MedGen record for Agenesis of pineal gland">Agenesis of pineal gland</a></span></li><li><span class="TLline"><a href="/medgen/235476" ref="tree=MeSH" title="MedGen record for Pineal cyst">Pineal cyst</a></span></li><li><span class="TLline"><a href="/medgen/473413" ref="tree=MeSH" title="MedGen record for Pineal gland calcification">Pineal gland calcification</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868384" ref="tree=MeSH" title="MedGen record for Abnormality of pineal physiology">Abnormality of pineal physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868383" ref="tree=MeSH" title="MedGen record for Abnormal pineal melatonin secretion">Abnormal pineal melatonin secretion</a></span></li></ul></li></ul></li><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="TLline"><a href="/medgen/868790" ref="tree=MeSH" title="MedGen record for Abnormal thyroid morphology">Abnormal thyroid morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1769718" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the thyroid gland">Aplasia/Hypoplasia of the thyroid gland</a></span></li><li><span class="TLline"><a href="/medgen/42270" ref="tree=MeSH" title="MedGen record for Goiter">Goiter</a></span></li><li><span class="TLline"><a href="/medgen/11810" ref="tree=MeSH" title="MedGen record for Thyroglossal cyst">Thyroglossal cyst</a></span></li><li><span class="TLline"><a href="/medgen/57879" ref="tree=MeSH" title="MedGen record for Thyroid cyst">Thyroid cyst</a></span></li><li><span class="TLline"><a href="/medgen/289647" ref="tree=MeSH" title="MedGen record for Thyroid dysgenesis">Thyroid dysgenesis</a></span></li><li><span class="TLline"><a href="/medgen/206817" ref="tree=MeSH" title="MedGen record for Thyroid hyperplasia">Thyroid hyperplasia</a></span></li><li><span class="TLline"><a href="/medgen/21547" ref="tree=MeSH" title="MedGen record for Thyroid nodule">Thyroid nodule</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/808233" ref="tree=MeSH" title="MedGen record for Abnormality of thyroid physiology">Abnormality of thyroid physiology</a></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></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></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></li><li><span class="TLline"><a href="/medgen/6991" ref="tree=MeSH" title="MedGen record for Hypothyroidism">Hypothyroidism</a></span></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></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><li><span class="TLline"><a href="/medgen/8349" ref="tree=MeSH" title="MedGen record for Diabetes insipidus">Diabetes insipidus</a></span><ul><li><span class="TLline"><a href="/medgen/1373297" ref="tree=MeSH" title="MedGen record for Adipsic Diabetes Insipidus">Adipsic Diabetes Insipidus</a></span></li><li><span class="TLline"><a href="/medgen/146919" ref="tree=MeSH" title="MedGen record for Central diabetes insipidus">Central diabetes insipidus</a></span><ul><li><span class="TLline"><a href="/medgen/1843437" ref="tree=MeSH" title="MedGen record for Acquired central diabetes insipidus">Acquired central diabetes insipidus</a></span></li><li><span class="TLline"><a href="/medgen/1380925" ref="tree=MeSH" title="MedGen record for Autosomal Dominant Neurohypophyseal Diabetes Insipidus">Autosomal Dominant Neurohypophyseal Diabetes Insipidus</a></span></li><li><span class="TLline"><a href="/medgen/574999" ref="tree=MeSH" title="MedGen record for Neurohypophyseal diabetes insipidus">Neurohypophyseal diabetes insipidus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82829" ref="tree=MeSH" title="MedGen record for Dipsogenic diabetes insipidus">Dipsogenic diabetes insipidus</a></span></li><li><span class="TLline"><a href="/medgen/57876" ref="tree=MeSH" title="MedGen record for Nephrogenic diabetes insipidus">Nephrogenic diabetes insipidus</a></span><ul><li><span class="TLline"><a href="/medgen/289643" ref="tree=MeSH" title="MedGen record for Diabetes insipidus, nephrogenic, autosomal">Diabetes insipidus, nephrogenic, autosomal</a></span></li><li><span class="TLline"><a href="/medgen/288785" ref="tree=MeSH" title="MedGen record for Diabetes insipidus, nephrogenic, X-linked">Diabetes insipidus, nephrogenic, X-linked</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/21923" ref="tree=MeSH" title="MedGen record for Wolfram syndrome">Wolfram syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1641635" ref="tree=MeSH" title="MedGen record for Wolfram syndrome 1">Wolfram syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/347604" ref="tree=MeSH" title="MedGen record for Wolfram syndrome 2">Wolfram syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/325511" ref="tree=MeSH" title="MedGen record for Wolfram syndrome, mitochondrial form">Wolfram syndrome, mitochondrial form</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/870247" ref="tree=MeSH" title="MedGen record for Puberty and gonadal disorders">Puberty and gonadal disorders</a></span><ul><li><span class="TLline"><a href="/medgen/375841" ref="tree=MeSH" title="MedGen record for Absence of pubertal development">Absence of pubertal development</a></span><ul><li><span class="TLline"><a href="/medgen/870212" ref="tree=MeSH" title="MedGen record for Pubertal developmental failure in females">Pubertal developmental failure in females</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867193" ref="tree=MeSH" title="MedGen record for Absence of secondary sex characteristics">Absence of secondary sex characteristics</a></span></li><li><span class="TLline"><a href="/medgen/86215" ref="tree=MeSH" title="MedGen record for Adrenogenital syndrome">Adrenogenital syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/7900" ref="tree=MeSH" title="MedGen record for Congenital adrenal hyperplasia">Congenital adrenal hyperplasia</a></span></li><li><span class="TLline"><a href="/medgen/266223" ref="tree=MeSH" title="MedGen record for Cortisone reductase deficiency">Cortisone reductase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/333960" ref="tree=MeSH" title="MedGen record for Glucocorticoid resistance">Glucocorticoid resistance</a></span></li><li><span class="TLline"><a href="/medgen/64509" ref="tree=MeSH" title="MedGen record for Hyperandrogenization syndrome">Hyperandrogenization syndrome</a></span></li><li><span class="TLline"><a href="/medgen/924576" ref="tree=MeSH" title="MedGen record for MIRAGE syndrome">MIRAGE syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/488853" ref="tree=MeSH" title="MedGen record for Androgen insufficiency">Androgen insufficiency</a></span></li><li><span class="TLline"><a href="/medgen/46203" ref="tree=MeSH" title="MedGen record for Delayed puberty">Delayed puberty</a></span><ul><li><span class="TLline"><a href="/medgen/699438" ref="tree=MeSH" title="MedGen record for Delayed adrenarche">Delayed adrenarche</a></span></li><li><span class="TLline"><a href="/medgen/184929" ref="tree=MeSH" title="MedGen record for Delayed menarche">Delayed menarche</a></span></li><li><span class="TLline"><a href="/medgen/1385135" ref="tree=MeSH" title="MedGen record for Delayed thelarche">Delayed thelarche</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868001" ref="tree=MeSH" title="MedGen record for Early onset of sexual maturation">Early onset of sexual maturation</a></span><ul><li><span class="TLline"><a href="/medgen/18752" ref="tree=MeSH" title="MedGen record for Precocious puberty">Precocious puberty</a></span></li><li><span class="TLline"><a href="/medgen/137972" ref="tree=MeSH" title="MedGen record for Premature adrenarche">Premature adrenarche</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5711" ref="tree=MeSH" title="MedGen record for Hypogonadism">Hypogonadism</a></span><ul><li><span class="TLline"><a href="/medgen/65949" ref="tree=MeSH" title="MedGen record for Eunuchism">Eunuchism</a></span></li><li><span class="TLline"><a href="/medgen/184926" ref="tree=MeSH" title="MedGen record for Hypergonadotropic hypogonadism">Hypergonadotropic hypogonadism</a></span></li><li><span class="TLline"><a href="/medgen/102469" ref="tree=MeSH" title="MedGen record for Hypogonadism with anosmia">Hypogonadism with anosmia</a></span></li><li><span class="TLline"><a href="/medgen/82883" ref="tree=MeSH" title="MedGen record for Hypogonadotropic hypogonadism">Hypogonadotropic hypogonadism</a></span></li><li><span class="TLline"><a href="/medgen/69170" ref="tree=MeSH" title="MedGen record for Infantilism, Sexual">Infantilism, Sexual</a></span></li><li><span class="TLline"><a href="/medgen/44033" ref="tree=MeSH" title="MedGen record for Klinefelter syndrome">Klinefelter syndrome</a></span></li><li><span class="TLline"><a href="/medgen/57480" ref="tree=MeSH" title="MedGen record for Male hypogonadism">Male hypogonadism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871191" ref="tree=MeSH" title="MedGen record for Leydig cell insensitivity to gonadotropin">Leydig cell insensitivity to gonadotropin</a></span></li><li><span class="TLline"><a href="/medgen/349078" ref="tree=MeSH" title="MedGen record for Primary gonadal insufficiency">Primary gonadal insufficiency</a></span></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_7764"><div><strong>Myasthenia gravis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7764</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.">C0026896</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Myasthenia gravis (MG) is an autoimmune disease in which antibodies bind to acetylcholine receptors or to functionally related molecules in the postsynaptic membrane at the neuromuscular junction. The antibodies induce weakness of skeletal muscles, which is the sole disease manifestation. The weakness can be generalized or localized, is more proximal than distal, and nearly always includes eye muscles, with diplopia and ptosis. The pattern of involvement is usually symmetric, apart from the eye involvement, which is often markedly asymmetric and involves several eye muscles. The weakness typically increases with exercise and repetitive muscle use (fatigue) and varies over the course of a day and from day to day, often with nearly normal muscle strength in the morning (summary by Gilhus, 2016).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/7764">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_75667"><div><strong>3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75667</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.">C0268297</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Pseudovaginal perineoscrotal hypospadias is a form of male pseudohermaphroditism in which 46,XY males show ambiguous genitalia at birth, including perineal hypospadias and a blind perineal pouch, and develop masculinization at puberty. The name of the disorder stems from the finding of a blind-ending perineal opening resembling a vagina and a severely hypospadiac penis with the urethra opening onto the perineum.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/75667">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_336425"><div><strong>Thymic-renal-anal-lung dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336425</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.">C1848812</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">This syndrome has characteristics of intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus. It has been described in three girls born to a nonconsanguineous couple.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/336425">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_376605"><div><strong>Pygmy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376605</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.">C1849524</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/376605">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_342106"><div><strong>Ectodermal dysplasia with adrenal cyst</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342106</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.">C1851850</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/342106">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_347159"><div><strong>Biemond syndrome type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347159</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.">C1859487</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">An exceedingly rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype including iris coloboma, short stature, obesity, hypogonadism, post axial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. The syndrome shares features with Bardet-Biedl syndrome. There have been no new descriptions in the literature since 1997.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/347159">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_414015"><div><strong>Candidiasis, familial, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414015</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.">C2751429</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Chronic mucocutaneous candidiasis (CMC) includes a group of rare disorders with altered immune responses, selective against Candida, characterized by persistent and/or recurrent infections of the skin, nails, and mucous membranes, caused by organisms of the genus Candida, mainly Candida albicans (Zuccarello et al., 2002). Isolated familial chronic mucocutaneous candidiasis is distinct from candidiasis with endocrinopathy (240300). In myeloperoxidase deficiency (254600), susceptibility to candidiasis may be increased. Genetic Heterogeneity of Candidiasis Familial candidiasis-1 (CANDF1) maps to chromosome 2p. CANDF2 (212050) is caused by mutation in the CARD9 gene (607212) on chromosome 9q34.3. CANDF3 (607644), a form restricted to nails of the hands and feet, maps to chromosome 11. CANDF4 (613108) is caused by mutation in the CLEC7A gene (606264) on chromosome 12p13. CANDF6 (613956) is caused by mutation in the IL17F gene (606496) on chromosome 6p12. CANDF7 (614162) is caused by mutation in the STAT1 gene (600555) on chromosome 2q32. CANDF8 (615527) is caused by mutation in the TRAF3IP2 gene (607043) on chromosome 6q21. CANDF9 (616445) is caused by mutation in the IL17RC gene (610925) on chromosome 3p25. A form of familial candidiasis, previously thought to be isolated and designated CANDF5, has been found to be part of a primary immune deficiency (IMD51; 613953) that includes Staphylococcal skin infections and increased susceptibility to chronic bacterial respiratory infections.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/414015">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75667" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347159" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Biemond syndrome type 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414015" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Candidiasis, familial, 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342106" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectodermal dysplasia with adrenal cyst</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_7764" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myasthenia gravis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376605" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pygmy</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336425" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thymic-renal-anal-lung dysplasia</a></div></div>
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</div>
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|
||
<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>
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||
<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>
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<div class="nl"><a target="_blank" href="/pubmed/34243621">Genetics, pathophysiology, diagnosis, treatment, management, and prevention of migraine.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Khan J,
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Asoom LIA,
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Sunni AA,
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Rafique N,
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Latif R,
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Saif SA,
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Almandil NB,
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Almohazey D,
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AbdulAzeez S,
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Borgio JF</span><br />
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<span class="medgenPMjournal">Biomed Pharmacother</span>
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2021 Jul;139:111557.
|
||
Epub 2021 May 17
|
||
doi: 10.1016/j.biopha.2021.111557.
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||
<span class="bold">PMID: </span><a href="/pubmed/34243621" target="_blank">34243621</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/32724183">Pathogenesis and treatment of primary aldosteronism.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zennaro MC,
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Boulkroun S,
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Fernandes-Rosa FL</span><br />
|
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<span class="medgenPMjournal">Nat Rev Endocrinol</span>
|
||
2020 Oct;16(10):578-589.
|
||
Epub 2020 Jul 28
|
||
doi: 10.1038/s41574-020-0382-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32724183" target="_blank">32724183</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24151290">Diagnosis and treatment of polycystic ovary syndrome: an Endocrine Society clinical practice guideline.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Legro RS,
|
||
Arslanian SA,
|
||
Ehrmann DA,
|
||
Hoeger KM,
|
||
Murad MH,
|
||
Pasquali R,
|
||
Welt CK;
|
||
Endocrine Society</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2013 Dec;98(12):4565-92.
|
||
Epub 2013 Oct 22
|
||
doi: 10.1210/jc.2013-2350.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24151290" target="_blank">24151290</a><a href="/pmc/articles/PMC5399492" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormality%20of%20the%20endocrine%20system)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (777)</a></div></div>
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|
||
<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/30066535">Environmental and individual exposure and the risk of congenital anomalies: a review of recent epidemiological evidence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baldacci S,
|
||
Gorini F,
|
||
Santoro M,
|
||
Pierini A,
|
||
Minichilli F,
|
||
Bianchi F</span><br />
|
||
<span class="medgenPMjournal">Epidemiol Prev</span>
|
||
2018 May-Aug;42(3-4 Suppl 1):1-34.
|
||
doi: 10.19191/EP18.3-4.S1.P001.057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30066535" target="_blank">30066535</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29135488">Endocrine manifestations of Down syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Whooten R,
|
||
Schmitt J,
|
||
Schwartz A</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Endocrinol Diabetes Obes</span>
|
||
2018 Feb;25(1):61-66.
|
||
doi: 10.1097/MED.0000000000000382.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29135488" target="_blank">29135488</a><a href="/pmc/articles/PMC6382276" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26941301">Epidemic of fear.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Normile D</span><br />
|
||
<span class="medgenPMjournal">Science</span>
|
||
2016 Mar 4;351(6277):1022-3.
|
||
doi: 10.1126/science.351.6277.1022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26941301" target="_blank">26941301</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25536970">Opioid endocrinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Demarest SP,
|
||
Gill RS,
|
||
Adler RA</span><br />
|
||
<span class="medgenPMjournal">Endocr Pract</span>
|
||
2015 Feb;21(2):190-8.
|
||
doi: 10.4158/EP14339.RA.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25536970" target="_blank">25536970</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22034143">Post-traumatic stress disorder: the neurobiological impact of psychological trauma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sherin JE,
|
||
Nemeroff CB</span><br />
|
||
<span class="medgenPMjournal">Dialogues Clin Neurosci</span>
|
||
2011;13(3):263-78.
|
||
doi: 10.31887/DCNS.2011.13.2/jsherin.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22034143" target="_blank">22034143</a><a href="/pmc/articles/PMC3182008" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20endocrine%20system%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (6946)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30309094">Horseshoe adrenal: Anatomical variant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xiang H,
|
||
Han J,
|
||
Ridley WE,
|
||
Ridley LJ</span><br />
|
||
<span class="medgenPMjournal">J Med Imaging Radiat Oncol</span>
|
||
2018 Oct;62 Suppl 1:82.
|
||
doi: 10.1111/1754-9485.30_12784.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30309094" target="_blank">30309094</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21821186">Multiple endocrine abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Durme CM,
|
||
Kisters JM,
|
||
van Paassen P,
|
||
van Etten RW,
|
||
Tervaert JW</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2011 Aug 6;378(9790):540.
|
||
doi: 10.1016/S0140-6736(11)60831-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21821186" target="_blank">21821186</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2866586">Endocrine disorders in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chernausek SD,
|
||
Leslie ND,
|
||
Bloch CA,
|
||
Sperling MA</span><br />
|
||
<span class="medgenPMjournal">Surg Clin North Am</span>
|
||
1985 Dec;65(6):1527-49.
|
||
doi: 10.1016/s0039-6109(16)43785-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2866586" target="_blank">2866586</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5581583">Pelvic pneumography in the diagnosis of endocrine and gynecologic disorders in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lippe BM,
|
||
Scalley JR,
|
||
Wong SL,
|
||
Desilets DT,
|
||
Gyepes MT,
|
||
Kaplan SA</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1971 May;78(5):779-87.
|
||
doi: 10.1016/s0022-3476(71)80348-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5581583" target="_blank">5581583</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4950924">Macroglossia, omphalocele, visceromegaly, cytomegaly of the adrenal cortex and neonatal hypoglycemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cohen MM Jr</span><br />
|
||
<span class="medgenPMjournal">Birth Defects Orig Artic Ser</span>
|
||
1971 Jun;7(7):226-32.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4950924" target="_blank">4950924</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20endocrine%20system%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 (7568)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32966723">Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Merke DP,
|
||
Auchus RJ</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Sep 24;383(13):1248-1261.
|
||
doi: 10.1056/NEJMra1909786.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32966723" target="_blank">32966723</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30066535">Environmental and individual exposure and the risk of congenital anomalies: a review of recent epidemiological evidence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baldacci S,
|
||
Gorini F,
|
||
Santoro M,
|
||
Pierini A,
|
||
Minichilli F,
|
||
Bianchi F</span><br />
|
||
<span class="medgenPMjournal">Epidemiol Prev</span>
|
||
2018 May-Aug;42(3-4 Suppl 1):1-34.
|
||
doi: 10.19191/EP18.3-4.S1.P001.057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30066535" target="_blank">30066535</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26941301">Epidemic of fear.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Normile D</span><br />
|
||
<span class="medgenPMjournal">Science</span>
|
||
2016 Mar 4;351(6277):1022-3.
|
||
doi: 10.1126/science.351.6277.1022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26941301" target="_blank">26941301</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25536970">Opioid endocrinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Demarest SP,
|
||
Gill RS,
|
||
Adler RA</span><br />
|
||
<span class="medgenPMjournal">Endocr Pract</span>
|
||
2015 Feb;21(2):190-8.
|
||
doi: 10.4158/EP14339.RA.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25536970" target="_blank">25536970</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1152164">Bilateral anorchism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reckler JM,
|
||
Rose LI,
|
||
Harrison JH</span><br />
|
||
<span class="medgenPMjournal">J Urol</span>
|
||
1975 Jun;113(6):869-70.
|
||
doi: 10.1016/s0022-5347(17)59602-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1152164" target="_blank">1152164</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20endocrine%20system%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 (4117)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29135488">Endocrine manifestations of Down syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Whooten R,
|
||
Schmitt J,
|
||
Schwartz A</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Endocrinol Diabetes Obes</span>
|
||
2018 Feb;25(1):61-66.
|
||
doi: 10.1097/MED.0000000000000382.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29135488" target="_blank">29135488</a><a href="/pmc/articles/PMC6382276" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28648504">Disorders of thyroid morphogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abu-Khudir R,
|
||
Larrivée-Vanier S,
|
||
Wasserman JD,
|
||
Deladoëy J</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
|
||
2017 Mar;31(2):143-159.
|
||
Epub 2017 Apr 21
|
||
doi: 10.1016/j.beem.2017.04.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28648504" target="_blank">28648504</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20610195">Cryptorchidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hutson JM,
|
||
Balic A,
|
||
Nation T,
|
||
Southwell B</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Surg</span>
|
||
2010 Aug;19(3):215-24.
|
||
doi: 10.1053/j.sempedsurg.2010.04.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20610195" target="_blank">20610195</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10640886">Maldescendus testis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Toppari J,
|
||
Kaleva M</span><br />
|
||
<span class="medgenPMjournal">Horm Res</span>
|
||
1999 Dec;51(6):261-9.
|
||
doi: 10.1159/000023412.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10640886" target="_blank">10640886</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7916154">Cryptorchidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rabinowitz R,
|
||
Hulbert WC Jr</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rev</span>
|
||
1994 Jul;15(7):272-4.
|
||
doi: 10.1542/pir.15-7-272.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7916154" target="_blank">7916154</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20endocrine%20system%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 (3113)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33647242">Endocrine disorders in Prader-Willi syndrome: a model to understand and treat hypothalamic dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tauber M,
|
||
Hoybye C</span><br />
|
||
<span class="medgenPMjournal">Lancet Diabetes Endocrinol</span>
|
||
2021 Apr;9(4):235-246.
|
||
Epub 2021 Feb 26
|
||
doi: 10.1016/S2213-8587(21)00002-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33647242" target="_blank">33647242</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27899157">Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eggers S,
|
||
Sadedin S,
|
||
van den Bergen JA,
|
||
Robevska G,
|
||
Ohnesorg T,
|
||
Hewitt J,
|
||
Lambeth L,
|
||
Bouty A,
|
||
Knarston IM,
|
||
Tan TY,
|
||
Cameron F,
|
||
Werther G,
|
||
Hutson J,
|
||
O'Connell M,
|
||
Grover SR,
|
||
Heloury Y,
|
||
Zacharin M,
|
||
Bergman P,
|
||
Kimber C,
|
||
Brown J,
|
||
Webb N,
|
||
Hunter MF,
|
||
Srinivasan S,
|
||
Titmuss A,
|
||
Verge CF,
|
||
Mowat D,
|
||
Smith G,
|
||
Smith J,
|
||
Ewans L,
|
||
Shalhoub C,
|
||
Crock P,
|
||
Cowell C,
|
||
Leong GM,
|
||
Ono M,
|
||
Lafferty AR,
|
||
Huynh T,
|
||
Visser U,
|
||
Choong CS,
|
||
McKenzie F,
|
||
Pachter N,
|
||
Thompson EM,
|
||
Couper J,
|
||
Baxendale A,
|
||
Gecz J,
|
||
Wheeler BJ,
|
||
Jefferies C,
|
||
MacKenzie K,
|
||
Hofman P,
|
||
Carter P,
|
||
King RI,
|
||
Krausz C,
|
||
van Ravenswaaij-Arts CM,
|
||
Looijenga L,
|
||
Drop S,
|
||
Riedl S,
|
||
Cools M,
|
||
Dawson A,
|
||
Juniarto AZ,
|
||
Khadilkar V,
|
||
Khadilkar A,
|
||
Bhatia V,
|
||
Dũng VC,
|
||
Atta I,
|
||
Raza J,
|
||
Thi Diem Chi N,
|
||
Hao TK,
|
||
Harley V,
|
||
Koopman P,
|
||
Warne G,
|
||
Faradz S,
|
||
Oshlack A,
|
||
Ayers KL,
|
||
Sinclair AH</span><br />
|
||
<span class="medgenPMjournal">Genome Biol</span>
|
||
2016 Nov 29;17(1):243.
|
||
doi: 10.1186/s13059-016-1105-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27899157" target="_blank">27899157</a><a href="/pmc/articles/PMC5126855" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22325418">Hepatogonadal fusion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fan R,
|
||
Faught PR,
|
||
Sun J,
|
||
Meldrum KK</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Surg</span>
|
||
2012 Feb;47(2):e5-6.
|
||
doi: 10.1016/j.jpedsurg.2011.10.071.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22325418" target="_blank">22325418</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20610195">Cryptorchidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hutson JM,
|
||
Balic A,
|
||
Nation T,
|
||
Southwell B</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Surg</span>
|
||
2010 Aug;19(3):215-24.
|
||
doi: 10.1053/j.sempedsurg.2010.04.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20610195" target="_blank">20610195</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10640886">Maldescendus testis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Toppari J,
|
||
Kaleva M</span><br />
|
||
<span class="medgenPMjournal">Horm Res</span>
|
||
1999 Dec;51(6):261-9.
|
||
doi: 10.1159/000023412.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10640886" target="_blank">10640886</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20endocrine%20system%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4632)</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/30916627">Cannabis and Male Fertility: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Payne KS,
|
||
Mazur DJ,
|
||
Hotaling JM,
|
||
Pastuszak AW</span><br />
|
||
<span class="medgenPMjournal">J Urol</span>
|
||
2019 Oct;202(4):674-681.
|
||
Epub 2019 Sep 6
|
||
doi: 10.1097/JU.0000000000000248.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30916627" target="_blank">30916627</a><a href="/pmc/articles/PMC7385722" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29153467">Ovarian torsion in pediatric and adolescent patients: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dasgupta R,
|
||
Renaud E,
|
||
Goldin AB,
|
||
Baird R,
|
||
Cameron DB,
|
||
Arnold MA,
|
||
Diefenbach KA,
|
||
Gosain A,
|
||
Grabowski J,
|
||
Guner YS,
|
||
Jancelewicz T,
|
||
Kawaguchi A,
|
||
Lal DR,
|
||
Oyetunji TA,
|
||
Ricca RL,
|
||
Shelton J,
|
||
Somme S,
|
||
Williams RF,
|
||
Downard CD</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Surg</span>
|
||
2018 Jul;53(7):1387-1391.
|
||
Epub 2017 Nov 16
|
||
doi: 10.1016/j.jpedsurg.2017.10.053.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29153467" target="_blank">29153467</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28705803">Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gravholt CH,
|
||
Andersen NH,
|
||
Conway GS,
|
||
Dekkers OM,
|
||
Geffner ME,
|
||
Klein KO,
|
||
Lin AE,
|
||
Mauras N,
|
||
Quigley CA,
|
||
Rubin K,
|
||
Sandberg DE,
|
||
Sas TCJ,
|
||
Silberbach M,
|
||
Söderström-Anttila V,
|
||
Stochholm K,
|
||
van Alfen-van derVelden JA,
|
||
Woelfle J,
|
||
Backeljauw PF;
|
||
International Turner Syndrome Consensus Group</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2017 Sep;177(3):G1-G70.
|
||
doi: 10.1530/EJE-17-0430.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28705803" target="_blank">28705803</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26867640">Effects of aging on the male reproductive system.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gunes S,
|
||
Hekim GN,
|
||
Arslan MA,
|
||
Asci R</span><br />
|
||
<span class="medgenPMjournal">J Assist Reprod Genet</span>
|
||
2016 Apr;33(4):441-54.
|
||
Epub 2016 Feb 11
|
||
doi: 10.1007/s10815-016-0663-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26867640" target="_blank">26867640</a><a href="/pmc/articles/PMC4818633" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18950759">The Androgen Excess and PCOS Society criteria for the polycystic ovary syndrome: the complete task force report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Azziz R,
|
||
Carmina E,
|
||
Dewailly D,
|
||
Diamanti-Kandarakis E,
|
||
Escobar-Morreale HF,
|
||
Futterweit W,
|
||
Janssen OE,
|
||
Legro RS,
|
||
Norman RJ,
|
||
Taylor AE,
|
||
Witchel SF;
|
||
Task Force on the Phenotype of the Polycystic Ovary Syndrome of The Androgen Excess and PCOS Society</span><br />
|
||
<span class="medgenPMjournal">Fertil Steril</span>
|
||
2009 Feb;91(2):456-88.
|
||
Epub 2008 Oct 23
|
||
doi: 10.1016/j.fertnstert.2008.06.035.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18950759" target="_blank">18950759</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20endocrine%20system%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (157)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4025823%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
|
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<li><a href="/gtr/tests?term=C4025823%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
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