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<!--
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||
UID=69138
|
||
ConceptID=C0241267
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Absence of subcutaneous fat</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69138</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.">C0241267</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Lack of subcutaneous fatty tissue</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:0007485">HP:0007485</a></td></tr>
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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">Lack of subcutaneous adipose tissue. [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=C0241267[DISCUI]&test_type=Clinical" ref="ncbi_uid=69138">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">Absence of subcutaneous fat</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/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/871127" ref="tree=MeSH" title="MedGen record for Abnormality of connective tissue">Abnormality of connective tissue</a></span><ul><li><span class="TLline"><a href="/medgen/867166" ref="tree=MeSH" title="MedGen record for Abnormal adipose tissue morphology">Abnormal adipose tissue morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868068" ref="tree=MeSH" title="MedGen record for Decreased adipose tissue">Decreased adipose tissue</a></span><ul><li><span class="TLline"><a href="/medgen/870181" ref="tree=MeSH" title="MedGen record for Adipose tissue loss">Adipose tissue loss</a></span><ul><li><span class="matched_ds">Absence of subcutaneous fat</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_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_46123"><div><strong>Hutchinson-Gilford syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>46123</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.">C0033300</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hutchinson-Gilford progeria syndrome (HGPS) is characterized by clinical features that typically develop in childhood and resemble some features of accelerated aging. Children with HGPS usually appear normal at birth. Profound failure to thrive occurs during the first year. Characteristic facial features include head that is disproportionately large for the face, narrow nasal ridge, narrow nasal tip, thin vermilion of the upper and lower lips, small mouth, and retro- and micrognathia. Common features include loss of subcutaneous fat, delayed eruption and loss of primary teeth, abnormal skin with small outpouchings over the abdomen and upper thighs, alopecia, nail dystrophy, coxa valga, and progressive joint contractures. Later findings include low-frequency conductive hearing loss, dental crowding, and partial lack of secondary tooth eruption. Motor and mental development is normal. Death occurs as a result of complications of severe atherosclerosis, either cardiac disease (myocardial infarction or heart failure) or cerebrovascular disease (stroke), generally between ages six and 20 years (average 14.5 years) without lonafarnib treatment or cardiac surgery intervention. Average life span is extended to approximately 17-19.5 years with lonafarnib therapy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/46123">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_140806"><div><strong>Neonatal pseudo-hydrocephalic progeroid syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140806</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.">C0406586</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Wiedemann-Rautenstrauch syndrome (WDRTS) is a rare autosomal recessive neonatal progeroid disorder characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment (summary by Toriello, 1990). Average survival in WDRTS is 7 months, although survival into the third decade of life has been reported (Akawi et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140806">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_164212"><div><strong>SHORT syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>164212</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.">C0878684</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SHORT syndrome is a mnemonic for short stature, hyperextensibility, ocular depression (deeply set eyes), Rieger anomaly, and teething delay. It is now recognized that the features most consistently observed in SHORT syndrome are mild intrauterine growth restriction (IUGR); mild to moderate short stature; partial lipodystrophy (evident in the face, and later in the chest and upper extremities, often sparing the buttocks and legs); and a characteristic facial gestalt. Insulin resistance may be evident in mid-childhood or adolescence, although diabetes mellitus typically does not develop until early adulthood. Other frequent features include Axenfeld-Rieger anomaly or related ocular anterior chamber dysgenesis, delayed dentition and other dental issues, and sensorineural hearing loss.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/164212">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355730"><div><strong>Trichothiodystrophy 1, photosensitive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355730</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.">C1866504</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">About half of all people with trichothiodystrophy have a photosensitive form of the disorder, which causes them to be extremely sensitive to ultraviolet (UV) rays from sunlight. They develop a severe sunburn after spending just a few minutes in the sun. However, for reasons that are unclear, they do not develop other sun-related problems such as excessive freckling of the skin or an increased risk of skin cancer. Many people with trichothiodystrophy report that they do not sweat.\n\nTrichothiodystrophy is also associated with recurrent infections, particularly respiratory infections, which can be life-threatening. People with trichothiodystrophy may have abnormal red blood cells, including red blood cells that are smaller than normal. They may also have elevated levels of a type of hemoglobin called A2, which is a protein found in red blood cells. Other features of trichothiodystrophy can include dry, scaly skin (ichthyosis); abnormalities of the fingernails and toenails; clouding of the lens in both eyes from birth (congenital cataracts); poor coordination; and skeletal abnormalities including degeneration of both hips at an early age.\n\nMothers of children with trichothiodystrophy may experience problems during pregnancy including pregnancy-induced high blood pressure (preeclampsia) and a related condition called HELLP syndrome that can damage the liver. Babies with trichothiodystrophy are at increased risk of premature birth, low birth weight, and slow growth. Most children with trichothiodystrophy have short stature compared to others their age. \n\nThe signs and symptoms of trichothiodystrophy vary widely. Mild cases may involve only the hair. More severe cases also cause delayed development, significant intellectual disability, and recurrent infections; severely affected individuals may survive only into infancy or early childhood.\n\nIn people with trichothiodystrophy, tests show that the hair is lacking sulfur-containing proteins that normally gives hair its strength. A cross section of a cut hair shows alternating light and dark banding that has been described as a "tiger tail."\n\nIntellectual disability and delayed development are common in people with trichothiodystrophy, although most affected individuals are highly social with an outgoing and engaging personality. Some people with trichothiodystrophy have brain abnormalities that can be seen with imaging tests. A common neurological feature of this disorder is impaired myelin production (dysmyelination). Myelin is a fatty substance that insulates nerve cells and promotes the rapid transmission of nerve impulses.\n\nTrichothiodystrophy, commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is hair that is sparse and easily broken. </div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355730">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_410064"><div><strong>XFE progeroid syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>410064</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.">C1970416</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An autosomal recessive condition caused by mutation(s) in the ERCC4 gene, encoding DNA repair endonuclease XPF. it is characterized by characterized by cutaneous photosensitivity and progeroid features in multiple organ systems.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/410064">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481430"><div><strong>Keppen-Lubinsky syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481430</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.">C3279800</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Keppen-Lubinsky syndrome (KPLBS) is a rare disorder characterized by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth (summary by Masotti et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481430">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_813897"><div><strong>Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>813897</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.">C3807567</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lipodystrophies are rare disorders characterized by loss of body fat from various regions and predisposition to metabolic complications of insulin resistance and lipid abnormalities. FPLD7 is an autosomal dominant disorder with a highly variable phenotype. Additional features, including early-onset cataracts and later onset of spasticity of the lower limbs, have been noted in some patients (summary by Garg et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/813897">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934763"><div><strong>Progeroid and marfanoid aspect-lipodystrophy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934763</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.">C4310796</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The marfanoid-progeroid-lipodystrophy syndrome (MFLS) is characterized by congenital lipodystrophy, premature birth with an accelerated linear growth disproportionate to weight gain, and progeroid appearance with distinct facial features, including proptosis, downslanting palpebral fissures, and retrognathia. Other characteristic features include arachnodactyly, digital hyperextensibility, myopia, dural ectasia, and normal psychomotor development (Takenouchi et al., 2013). Takenouchi et al. (2013) noted phenotypic overlap with Marfan syndrome (154700) and Shprintzen-Goldberg craniosynostosis syndrome (182212).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934763">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1823971"><div><strong>Primordial dwarfism-immunodeficiency-lipodystrophy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823971</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.">C5774198</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primordial dwarfism-immunodeficiency-lipodystrophy syndrome (PDIL) is characterized by pre- and postnatal growth restriction, with extreme microcephaly, short stature, and absence of subcutaneous fat. There is also significant hematologic/immune dysfunction, with hypo- or agammaglobulinemia, as well as lymphopenia, anemia, and thrombocytopenia, and most affected individuals succumb to infection in early childhood (Parry et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1823971">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_46123" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hutchinson-Gilford syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481430" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Keppen-Lubinsky syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140806" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neonatal pseudo-hydrocephalic progeroid syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_813897" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823971" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primordial dwarfism-immunodeficiency-lipodystrophy syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (9)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934763" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progeroid and marfanoid aspect-lipodystrophy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_164212" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">SHORT syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355730" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Trichothiodystrophy 1, photosensitive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_410064" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">XFE progeroid syndrome</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35432188">Magnetic Resonance Imaging Assessment of Abdominal Ectopic Fat Deposition in Correlation With Cardiometabolic Risk Factors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang QH,
|
||
Xie LH,
|
||
Zhang HN,
|
||
Liu JH,
|
||
Zhao Y,
|
||
Chen LH,
|
||
Ju Y,
|
||
Chen AL,
|
||
Wang N,
|
||
Song QW,
|
||
Xie LZ,
|
||
Liu AL</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2022;13:820023.
|
||
Epub 2022 Mar 30
|
||
doi: 10.3389/fendo.2022.820023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35432188" target="_blank">35432188</a><a href="/pmc/articles/PMC9005896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34970225">The Appropriateness Criteria of Abdominal Fat Measurement at the Level of the L1-L2 Intervertebral Disc in Patients With Obesity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun J,
|
||
Lv H,
|
||
Zhang M,
|
||
Li M,
|
||
Zhao L,
|
||
Zeng N,
|
||
Liu Y,
|
||
Wei X,
|
||
Chen Q,
|
||
Ren P,
|
||
Liu Y,
|
||
Zhang P,
|
||
Yang Z,
|
||
Zhang Z,
|
||
Wang Z</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2021;12:784056.
|
||
Epub 2021 Dec 14
|
||
doi: 10.3389/fendo.2021.784056.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34970225" target="_blank">34970225</a><a href="/pmc/articles/PMC8712928" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6807584">Diagnosis and treatment of children with growth hormone deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Preece MA</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol Metab</span>
|
||
1982 Mar;11(1):1-24.
|
||
doi: 10.1016/s0300-595x(82)80035-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6807584" target="_blank">6807584</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(absence%20of%20subcutaneous%20fat)%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 (7)</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/38561962">Effect of liraglutide on thigh muscle fat and muscle composition in adults with overweight or obesity: Results from a randomized clinical trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pandey A,
|
||
Patel KV,
|
||
Segar MW,
|
||
Ayers C,
|
||
Linge J,
|
||
Leinhard OD,
|
||
Anker SD,
|
||
Butler J,
|
||
Verma S,
|
||
Joshi PH,
|
||
Neeland IJ</span><br />
|
||
<span class="medgenPMjournal">J Cachexia Sarcopenia Muscle</span>
|
||
2024 Jun;15(3):1072-1083.
|
||
Epub 2024 Apr 1
|
||
doi: 10.1002/jcsm.13445.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38561962" target="_blank">38561962</a><a href="/pmc/articles/PMC11154779" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37465122">Effect of sodium-glucose transporter 2 inhibitors on sarcopenia in patients with type 2 diabetes mellitus: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang S,
|
||
Qi Z,
|
||
Wang Y,
|
||
Song D,
|
||
Zhu D</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2023;14:1203666.
|
||
Epub 2023 Jul 3
|
||
doi: 10.3389/fendo.2023.1203666.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37465122" target="_blank">37465122</a><a href="/pmc/articles/PMC10351980" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36483239">Efficacy of electro-acupuncture in postpartum with diastasis recti abdominis: A randomized controlled clinical trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu Y,
|
||
Zhu Y,
|
||
Jiang L,
|
||
Lu C,
|
||
Xiao L,
|
||
Wang T,
|
||
Chen J,
|
||
Sun L,
|
||
Deng L,
|
||
Gu M,
|
||
Zheng T,
|
||
Feng M,
|
||
Shi Y</span><br />
|
||
<span class="medgenPMjournal">Front Public Health</span>
|
||
2022;10:1003361.
|
||
Epub 2022 Nov 15
|
||
doi: 10.3389/fpubh.2022.1003361.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36483239" target="_blank">36483239</a><a href="/pmc/articles/PMC9724647" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32128581">Metabolically Healthy Obesity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blüher M</span><br />
|
||
<span class="medgenPMjournal">Endocr Rev</span>
|
||
2020 May 1;41(3)
|
||
doi: 10.1210/endrev/bnaa004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32128581" target="_blank">32128581</a><a href="/pmc/articles/PMC7098708" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2683401">Spigelian hernia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spangen L</span><br />
|
||
<span class="medgenPMjournal">World J Surg</span>
|
||
1989 Sep-Oct;13(5):573-80.
|
||
doi: 10.1007/BF01658873.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2683401" target="_blank">2683401</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absence%20of%20subcutaneous%20fat%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 (210)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38871514">Lipomatoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dupuis H,
|
||
Lemaitre M,
|
||
Jannin A,
|
||
Douillard C,
|
||
Espiard S,
|
||
Vantyghem MC</span><br />
|
||
<span class="medgenPMjournal">Ann Endocrinol (Paris)</span>
|
||
2024 Jun;85(3):231-247.
|
||
Epub 2024 Jun 12
|
||
doi: 10.1016/j.ando.2024.05.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38871514" target="_blank">38871514</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36407325">The lipid accumulation product is a powerful tool to diagnose metabolic dysfunction-associated fatty liver disease in the United States adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li H,
|
||
Zhang Y,
|
||
Luo H,
|
||
Lin R</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2022;13:977625.
|
||
Epub 2022 Nov 4
|
||
doi: 10.3389/fendo.2022.977625.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36407325" target="_blank">36407325</a><a href="/pmc/articles/PMC9672518" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33899768">Verrucous Venous Malformation-Subcutaneous Variant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schmidt BAR,
|
||
El Zein S,
|
||
Cuoto J,
|
||
Al-Ibraheemi A,
|
||
Liang MG,
|
||
Paltiel HJ,
|
||
Anderson ME,
|
||
Labow BI,
|
||
Upton J,
|
||
Fishman SJ,
|
||
Mulliken JB,
|
||
Greene AK,
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Blüher M</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/38561962">Effect of liraglutide on thigh muscle fat and muscle composition in adults with overweight or obesity: Results from a randomized clinical trial.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pandey A,
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<div class="nl"><a target="_blank" href="/pubmed/37867527">Beyond apples and pears: sex-specific genetics of body fat percentage.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Roshandel D,
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<span class="bold">PMID: </span><a href="/pubmed/37867527" target="_blank">37867527</a><a href="/pmc/articles/PMC10585153" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37465122">Effect of sodium-glucose transporter 2 inhibitors on sarcopenia in patients with type 2 diabetes mellitus: a systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zhang S,
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<span class="bold">PMID: </span><a href="/pubmed/37465122" target="_blank">37465122</a><a href="/pmc/articles/PMC10351980" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36483239">Efficacy of electro-acupuncture in postpartum with diastasis recti abdominis: A randomized controlled clinical trial.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Liu Y,
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Zhu Y,
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Lu C,
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Xiao L,
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Deng L,
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<div class="nl"><a target="_blank" href="/pubmed/34623410">Association of Mode of Obstetric Delivery With Child and Adolescent Body Composition.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mínguez-Alarcón L,
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Rifas-Shiman SL,
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Sordillo JE,
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Aris IM,
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Wu AJ,
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Hivert MF,
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Oken E,
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Chavarro JE</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/34623410" target="_blank">34623410</a><a href="/pmc/articles/PMC8501392" 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=%22Absence%20of%20subcutaneous%20fat%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 (112)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38077332">Prognostic value of body composition on survival outcomes in melanoma patients receiving immunotherapy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kuang T,
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Zhang L,
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<span class="bold">PMID: </span><a href="/pubmed/38077332" target="_blank">38077332</a><a href="/pmc/articles/PMC10704136" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/38069028">Loss of Uncoupling Protein 1 Expression in the Subcutaneous Adipose Tissue Predicts Childhood Obesity.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gyurina K,
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<span class="bold">PMID: </span><a href="/pubmed/38069028" target="_blank">38069028</a><a href="/pmc/articles/PMC10706300" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/37078845" target="_blank">37078845</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/34484128" target="_blank">34484128</a><a href="/pmc/articles/PMC8415546" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/21424264">Correlation of fat embolism severity and subcutaneous fatty tissue crushing and bone fractures.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absence%20of%20subcutaneous%20fat%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 (82)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38561962">Effect of liraglutide on thigh muscle fat and muscle composition in adults with overweight or obesity: Results from a randomized clinical trial.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pandey A,
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Patel KV,
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Segar MW,
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Ayers C,
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Linge J,
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Leinhard OD,
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Anker SD,
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Epub 2024 Apr 1
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doi: 10.1002/jcsm.13445.
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<span class="bold">PMID: </span><a href="/pubmed/38561962" target="_blank">38561962</a><a href="/pmc/articles/PMC11154779" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/38321009">Clinical and imaging features of women with polygenic partial lipodystrophy: a case series.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/38321009" target="_blank">38321009</a><a href="/pmc/articles/PMC10847407" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32232577">Physiological and Lifestyle Traits of Metabolic Dysfunction in the Absence of Obesity.</a></div>
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Kilbak JH,
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<div class="nl"><a target="_blank" href="/pubmed/32128581">Metabolically Healthy Obesity.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26047608">Angioleiomyoma of the Sinonasal Tract: Analysis of 16 Cases and Review of the Literature.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absence%20of%20subcutaneous%20fat%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 (164)</a></div></div>
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</div>
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|
||
<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/38077332">Prognostic value of body composition on survival outcomes in melanoma patients receiving immunotherapy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Kuang T,
|
||
Zhang L,
|
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Qiu Z,
|
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Zhang Y,
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Wang W</span><br />
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<span class="medgenPMjournal">Front Immunol</span>
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2023;14:1261202.
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Epub 2023 Nov 22
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||
doi: 10.3389/fimmu.2023.1261202.
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||
<span class="bold">PMID: </span><a href="/pubmed/38077332" target="_blank">38077332</a><a href="/pmc/articles/PMC10704136" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37465122">Effect of sodium-glucose transporter 2 inhibitors on sarcopenia in patients with type 2 diabetes mellitus: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang S,
|
||
Qi Z,
|
||
Wang Y,
|
||
Song D,
|
||
Zhu D</span><br />
|
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<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
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2023;14:1203666.
|
||
Epub 2023 Jul 3
|
||
doi: 10.3389/fendo.2023.1203666.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37465122" target="_blank">37465122</a><a href="/pmc/articles/PMC10351980" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34566888">Imaging-Based Body Fat Distribution in Polycystic Ovary Syndrome: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhu S,
|
||
Li Z,
|
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Hu C,
|
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Sun F,
|
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Wang C,
|
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Yuan H,
|
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Li Y</span><br />
|
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<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
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2021;12:697223.
|
||
Epub 2021 Sep 9
|
||
doi: 10.3389/fendo.2021.697223.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34566888" target="_blank">34566888</a><a href="/pmc/articles/PMC8458943" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34220701">Effect of SGLT2 Inhibitors on Type 2 Diabetes Mellitus With Non-Alcoholic Fatty Liver Disease: A Meta-Analysis of Randomized Controlled Trials.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Wei Q,
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Xu X,
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Guo L,
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Li J,
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Li L</span><br />
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<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
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2021;12:635556.
|
||
Epub 2021 Jun 17
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||
doi: 10.3389/fendo.2021.635556.
|
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<span class="bold">PMID: </span><a href="/pubmed/34220701" target="_blank">34220701</a><a href="/pmc/articles/PMC8247927" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30633132">Side Effects and Health Benefits of Depot Medroxyprogesterone Acetate: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dianat S,
|
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Fox E,
|
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Ahrens KA,
|
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Upadhyay UD,
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Zlidar VM,
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Gallo MF,
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Stidd RL,
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Moskosky S,
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<span class="medgenPMjournal">Obstet Gynecol</span>
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2019 Feb;133(2):332-341.
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<span class="bold">PMID: </span><a href="/pubmed/30633132" target="_blank">30633132</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absence%20of%20subcutaneous%20fat%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 (5)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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|
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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet mgSection" id="ID_106">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0241267%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0241267%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (2)</a></li>
|
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