Hormonal, pituitary magnetic resonance, LHX4 and HESX1 evaluation in patients with hypopituitarism and ectopic posterior pituitary lobe
Summary Objective LHX4 and HESX1 are important in early stages of pituitary development and their mutations can be associated with an ectopic posterior lobe (EPL) in the pituitary of patients with hypopituitarism. The EPL can be located at the median eminence or at the path of the pituitary stalk....
Gespeichert in:
| Veröffentlicht in: | Clinical endocrinology (Oxford) 2007-01, Vol.66 (1), p.95-102 |
|---|---|
| Hauptverfasser: | , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 102 |
|---|---|
| container_issue | 1 |
| container_start_page | 95 |
| container_title | Clinical endocrinology (Oxford) |
| container_volume | 66 |
| creator | Melo, Maria Edna Marui, Suemi Carvalho, Luciani Renata Arnhold, Ivo Jorge Prado Leite, Claudia Costa Mendonça, Berenice Bilharinho Knoepfelmacher, Mirta |
| description | Summary
Objective LHX4 and HESX1 are important in early stages of pituitary development and their mutations can be associated with an ectopic posterior lobe (EPL) in the pituitary of patients with hypopituitarism. The EPL can be located at the median eminence or at the path of the pituitary stalk. The aim of this study was to analyse LHX4 and HESX1 and characterize the hormonal deficiency profiles, establishing relationships with magnetic resonance imaging (MRI) findings in these patients.
Patients and design Sixty‐two patients with hypopituitarism associated with EPL were submitted to evaluation of pituitary function, analysis of MRI with EPL location and molecular analysis of LHX4 and HESX1 using polymerase chain reaction (PCR), digestion with restriction enzyme and automatic sequencing.
Results Forty‐two patients had a nonvisualized pituitary stalk (NPS), and 20 a visualized pituitary stalk (VPS). Most patients (95%) with NPS had combined pituitary hormone deficiency (CPHD), with ACTH deficiency in 85%. In patients with VPS, CPHD was found in 50% and ACTH deficiency occurred in only 20%. The frequency of the location of EPL was similar in patients with VPS and NPS: 35% at median eminence and 65% at the path of the stalk. No mutations in LHX4 and HESX1 were identified. Three new polymorphisms in LHX4 were found.
Conclusions ACTH deficiency is frequent in patients with hypopituitarism and NPS (85%), the location of EPL at the median eminence was not predictive of the hormonal profile [isolated GH deficiency (IGHD) or CPHD], and LHX4 and HESX1 genes mutations remain rare causes of hypopituitarism associated with EPL. |
| doi_str_mv | 10.1111/j.1365-2265.2006.02692.x |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_68394799</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>68394799</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4352-8be7714b789d249dd8b50116d74e921c20caeb2f2f30ce2c027da8f4ec20c5b93</originalsourceid><addsrcrecordid>eNqNkcGO0zAQhi0EYsvCKyBf4LQJtpPYyYEDqkqLVJXDlqU3y3EmrEsSZ-2EbZ-A18bZll2O-OLRzPfPjP5BCFMS0_A-7GOa8CxijGcxI4THhPGCxYdnaPZYeI5mJCEkIpynF-iV93tCSJYT8RJdUMEIDeEM_V5Z19pONVe4N8NoBuWOuFU_OhiMxg58qHUarvB6tUux6iq8WlzvKIZfqhnVYGyHTYf7EEE3eHxvhlt8e-zt32bGtw8q0EPIadxbP4Az1v0zrrElvEYvatV4eHP-L9G3z4vtfBWtvy6_zD-tI50mGYvyEoSgaSnyomJpUVV5mRFKeSVSKBjVjGgFJatZnRANTBMmKpXXKUyVrCySS_T-1Ld39m4EP8jWeA1Nozqwo5c8T4pUFBOYn0DtrPcOatk704Z1JSVyOoLcy8lrOXktpyPIhyPIQ5C-Pc8YyxaqJ-HZ9QC8OwPKa9XULlhs_BOXp7ngdOI-nrh708DxvxeQ88VmioI-OulNMP3wqFfup-QiEZn8vlnK7eZmubu-2cpV8gdZ1bR6</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>68394799</pqid></control><display><type>article</type><title>Hormonal, pituitary magnetic resonance, LHX4 and HESX1 evaluation in patients with hypopituitarism and ectopic posterior pituitary lobe</title><source>Wiley Online Library - AutoHoldings Journals</source><source>MEDLINE</source><creator>Melo, Maria Edna ; Marui, Suemi ; Carvalho, Luciani Renata ; Arnhold, Ivo Jorge Prado ; Leite, Claudia Costa ; Mendonça, Berenice Bilharinho ; Knoepfelmacher, Mirta</creator><creatorcontrib>Melo, Maria Edna ; Marui, Suemi ; Carvalho, Luciani Renata ; Arnhold, Ivo Jorge Prado ; Leite, Claudia Costa ; Mendonça, Berenice Bilharinho ; Knoepfelmacher, Mirta</creatorcontrib><description>Summary
Objective LHX4 and HESX1 are important in early stages of pituitary development and their mutations can be associated with an ectopic posterior lobe (EPL) in the pituitary of patients with hypopituitarism. The EPL can be located at the median eminence or at the path of the pituitary stalk. The aim of this study was to analyse LHX4 and HESX1 and characterize the hormonal deficiency profiles, establishing relationships with magnetic resonance imaging (MRI) findings in these patients.
Patients and design Sixty‐two patients with hypopituitarism associated with EPL were submitted to evaluation of pituitary function, analysis of MRI with EPL location and molecular analysis of LHX4 and HESX1 using polymerase chain reaction (PCR), digestion with restriction enzyme and automatic sequencing.
Results Forty‐two patients had a nonvisualized pituitary stalk (NPS), and 20 a visualized pituitary stalk (VPS). Most patients (95%) with NPS had combined pituitary hormone deficiency (CPHD), with ACTH deficiency in 85%. In patients with VPS, CPHD was found in 50% and ACTH deficiency occurred in only 20%. The frequency of the location of EPL was similar in patients with VPS and NPS: 35% at median eminence and 65% at the path of the stalk. No mutations in LHX4 and HESX1 were identified. Three new polymorphisms in LHX4 were found.
Conclusions ACTH deficiency is frequent in patients with hypopituitarism and NPS (85%), the location of EPL at the median eminence was not predictive of the hormonal profile [isolated GH deficiency (IGHD) or CPHD], and LHX4 and HESX1 genes mutations remain rare causes of hypopituitarism associated with EPL.</description><identifier>ISSN: 0300-0664</identifier><identifier>EISSN: 1365-2265</identifier><identifier>DOI: 10.1111/j.1365-2265.2006.02692.x</identifier><identifier>PMID: 17201807</identifier><identifier>CODEN: CLECAP</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Adolescent ; Adrenocorticotropic Hormone - blood ; Adult ; Alleles ; Biological and medical sciences ; Chi-Square Distribution ; Child ; Child, Preschool ; Choristoma - blood ; Choristoma - pathology ; Endocrinopathies ; Female ; Fundamental and applied biological sciences. Psychology ; Gene Expression ; Homeodomain Proteins - genetics ; Humans ; Hypopituitarism - blood ; Hypopituitarism - pathology ; Hypothalamus. Hypophysis. Epiphysis (diseases) ; LIM-Homeodomain Proteins ; Magnetic Resonance Imaging ; Male ; Median Eminence - pathology ; Medical sciences ; Non tumoral diseases. Target tissue resistance. Benign neoplasms ; Pituitary Gland - pathology ; Pituitary Gland, Posterior ; Pituitary Hormones - blood ; Polymerase Chain Reaction - methods ; Polymorphism, Genetic ; Pregnancy ; Transcription Factors - genetics ; Vertebrates: endocrinology</subject><ispartof>Clinical endocrinology (Oxford), 2007-01, Vol.66 (1), p.95-102</ispartof><rights>2007 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4352-8be7714b789d249dd8b50116d74e921c20caeb2f2f30ce2c027da8f4ec20c5b93</citedby><cites>FETCH-LOGICAL-c4352-8be7714b789d249dd8b50116d74e921c20caeb2f2f30ce2c027da8f4ec20c5b93</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1365-2265.2006.02692.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1365-2265.2006.02692.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,4009,27902,27903,27904,45553,45554</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=18487617$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17201807$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Melo, Maria Edna</creatorcontrib><creatorcontrib>Marui, Suemi</creatorcontrib><creatorcontrib>Carvalho, Luciani Renata</creatorcontrib><creatorcontrib>Arnhold, Ivo Jorge Prado</creatorcontrib><creatorcontrib>Leite, Claudia Costa</creatorcontrib><creatorcontrib>Mendonça, Berenice Bilharinho</creatorcontrib><creatorcontrib>Knoepfelmacher, Mirta</creatorcontrib><title>Hormonal, pituitary magnetic resonance, LHX4 and HESX1 evaluation in patients with hypopituitarism and ectopic posterior pituitary lobe</title><title>Clinical endocrinology (Oxford)</title><addtitle>Clin Endocrinol (Oxf)</addtitle><description>Summary
Objective LHX4 and HESX1 are important in early stages of pituitary development and their mutations can be associated with an ectopic posterior lobe (EPL) in the pituitary of patients with hypopituitarism. The EPL can be located at the median eminence or at the path of the pituitary stalk. The aim of this study was to analyse LHX4 and HESX1 and characterize the hormonal deficiency profiles, establishing relationships with magnetic resonance imaging (MRI) findings in these patients.
Patients and design Sixty‐two patients with hypopituitarism associated with EPL were submitted to evaluation of pituitary function, analysis of MRI with EPL location and molecular analysis of LHX4 and HESX1 using polymerase chain reaction (PCR), digestion with restriction enzyme and automatic sequencing.
Results Forty‐two patients had a nonvisualized pituitary stalk (NPS), and 20 a visualized pituitary stalk (VPS). Most patients (95%) with NPS had combined pituitary hormone deficiency (CPHD), with ACTH deficiency in 85%. In patients with VPS, CPHD was found in 50% and ACTH deficiency occurred in only 20%. The frequency of the location of EPL was similar in patients with VPS and NPS: 35% at median eminence and 65% at the path of the stalk. No mutations in LHX4 and HESX1 were identified. Three new polymorphisms in LHX4 were found.
Conclusions ACTH deficiency is frequent in patients with hypopituitarism and NPS (85%), the location of EPL at the median eminence was not predictive of the hormonal profile [isolated GH deficiency (IGHD) or CPHD], and LHX4 and HESX1 genes mutations remain rare causes of hypopituitarism associated with EPL.</description><subject>Adolescent</subject><subject>Adrenocorticotropic Hormone - blood</subject><subject>Adult</subject><subject>Alleles</subject><subject>Biological and medical sciences</subject><subject>Chi-Square Distribution</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Choristoma - blood</subject><subject>Choristoma - pathology</subject><subject>Endocrinopathies</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene Expression</subject><subject>Homeodomain Proteins - genetics</subject><subject>Humans</subject><subject>Hypopituitarism - blood</subject><subject>Hypopituitarism - pathology</subject><subject>Hypothalamus. Hypophysis. Epiphysis (diseases)</subject><subject>LIM-Homeodomain Proteins</subject><subject>Magnetic Resonance Imaging</subject><subject>Male</subject><subject>Median Eminence - pathology</subject><subject>Medical sciences</subject><subject>Non tumoral diseases. Target tissue resistance. Benign neoplasms</subject><subject>Pituitary Gland - pathology</subject><subject>Pituitary Gland, Posterior</subject><subject>Pituitary Hormones - blood</subject><subject>Polymerase Chain Reaction - methods</subject><subject>Polymorphism, Genetic</subject><subject>Pregnancy</subject><subject>Transcription Factors - genetics</subject><subject>Vertebrates: endocrinology</subject><issn>0300-0664</issn><issn>1365-2265</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkcGO0zAQhi0EYsvCKyBf4LQJtpPYyYEDqkqLVJXDlqU3y3EmrEsSZ-2EbZ-A18bZll2O-OLRzPfPjP5BCFMS0_A-7GOa8CxijGcxI4THhPGCxYdnaPZYeI5mJCEkIpynF-iV93tCSJYT8RJdUMEIDeEM_V5Z19pONVe4N8NoBuWOuFU_OhiMxg58qHUarvB6tUux6iq8WlzvKIZfqhnVYGyHTYf7EEE3eHxvhlt8e-zt32bGtw8q0EPIadxbP4Az1v0zrrElvEYvatV4eHP-L9G3z4vtfBWtvy6_zD-tI50mGYvyEoSgaSnyomJpUVV5mRFKeSVSKBjVjGgFJatZnRANTBMmKpXXKUyVrCySS_T-1Ld39m4EP8jWeA1Nozqwo5c8T4pUFBOYn0DtrPcOatk704Z1JSVyOoLcy8lrOXktpyPIhyPIQ5C-Pc8YyxaqJ-HZ9QC8OwPKa9XULlhs_BOXp7ngdOI-nrh708DxvxeQ88VmioI-OulNMP3wqFfup-QiEZn8vlnK7eZmubu-2cpV8gdZ1bR6</recordid><startdate>200701</startdate><enddate>200701</enddate><creator>Melo, Maria Edna</creator><creator>Marui, Suemi</creator><creator>Carvalho, Luciani Renata</creator><creator>Arnhold, Ivo Jorge Prado</creator><creator>Leite, Claudia Costa</creator><creator>Mendonça, Berenice Bilharinho</creator><creator>Knoepfelmacher, Mirta</creator><general>Blackwell Publishing Ltd</general><general>Blackwell</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>200701</creationdate><title>Hormonal, pituitary magnetic resonance, LHX4 and HESX1 evaluation in patients with hypopituitarism and ectopic posterior pituitary lobe</title><author>Melo, Maria Edna ; Marui, Suemi ; Carvalho, Luciani Renata ; Arnhold, Ivo Jorge Prado ; Leite, Claudia Costa ; Mendonça, Berenice Bilharinho ; Knoepfelmacher, Mirta</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4352-8be7714b789d249dd8b50116d74e921c20caeb2f2f30ce2c027da8f4ec20c5b93</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Adolescent</topic><topic>Adrenocorticotropic Hormone - blood</topic><topic>Adult</topic><topic>Alleles</topic><topic>Biological and medical sciences</topic><topic>Chi-Square Distribution</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Choristoma - blood</topic><topic>Choristoma - pathology</topic><topic>Endocrinopathies</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gene Expression</topic><topic>Homeodomain Proteins - genetics</topic><topic>Humans</topic><topic>Hypopituitarism - blood</topic><topic>Hypopituitarism - pathology</topic><topic>Hypothalamus. Hypophysis. Epiphysis (diseases)</topic><topic>LIM-Homeodomain Proteins</topic><topic>Magnetic Resonance Imaging</topic><topic>Male</topic><topic>Median Eminence - pathology</topic><topic>Medical sciences</topic><topic>Non tumoral diseases. Target tissue resistance. Benign neoplasms</topic><topic>Pituitary Gland - pathology</topic><topic>Pituitary Gland, Posterior</topic><topic>Pituitary Hormones - blood</topic><topic>Polymerase Chain Reaction - methods</topic><topic>Polymorphism, Genetic</topic><topic>Pregnancy</topic><topic>Transcription Factors - genetics</topic><topic>Vertebrates: endocrinology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Melo, Maria Edna</creatorcontrib><creatorcontrib>Marui, Suemi</creatorcontrib><creatorcontrib>Carvalho, Luciani Renata</creatorcontrib><creatorcontrib>Arnhold, Ivo Jorge Prado</creatorcontrib><creatorcontrib>Leite, Claudia Costa</creatorcontrib><creatorcontrib>Mendonça, Berenice Bilharinho</creatorcontrib><creatorcontrib>Knoepfelmacher, Mirta</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical endocrinology (Oxford)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Melo, Maria Edna</au><au>Marui, Suemi</au><au>Carvalho, Luciani Renata</au><au>Arnhold, Ivo Jorge Prado</au><au>Leite, Claudia Costa</au><au>Mendonça, Berenice Bilharinho</au><au>Knoepfelmacher, Mirta</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Hormonal, pituitary magnetic resonance, LHX4 and HESX1 evaluation in patients with hypopituitarism and ectopic posterior pituitary lobe</atitle><jtitle>Clinical endocrinology (Oxford)</jtitle><addtitle>Clin Endocrinol (Oxf)</addtitle><date>2007-01</date><risdate>2007</risdate><volume>66</volume><issue>1</issue><spage>95</spage><epage>102</epage><pages>95-102</pages><issn>0300-0664</issn><eissn>1365-2265</eissn><coden>CLECAP</coden><abstract>Summary
Objective LHX4 and HESX1 are important in early stages of pituitary development and their mutations can be associated with an ectopic posterior lobe (EPL) in the pituitary of patients with hypopituitarism. The EPL can be located at the median eminence or at the path of the pituitary stalk. The aim of this study was to analyse LHX4 and HESX1 and characterize the hormonal deficiency profiles, establishing relationships with magnetic resonance imaging (MRI) findings in these patients.
Patients and design Sixty‐two patients with hypopituitarism associated with EPL were submitted to evaluation of pituitary function, analysis of MRI with EPL location and molecular analysis of LHX4 and HESX1 using polymerase chain reaction (PCR), digestion with restriction enzyme and automatic sequencing.
Results Forty‐two patients had a nonvisualized pituitary stalk (NPS), and 20 a visualized pituitary stalk (VPS). Most patients (95%) with NPS had combined pituitary hormone deficiency (CPHD), with ACTH deficiency in 85%. In patients with VPS, CPHD was found in 50% and ACTH deficiency occurred in only 20%. The frequency of the location of EPL was similar in patients with VPS and NPS: 35% at median eminence and 65% at the path of the stalk. No mutations in LHX4 and HESX1 were identified. Three new polymorphisms in LHX4 were found.
Conclusions ACTH deficiency is frequent in patients with hypopituitarism and NPS (85%), the location of EPL at the median eminence was not predictive of the hormonal profile [isolated GH deficiency (IGHD) or CPHD], and LHX4 and HESX1 genes mutations remain rare causes of hypopituitarism associated with EPL.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>17201807</pmid><doi>10.1111/j.1365-2265.2006.02692.x</doi><tpages>8</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0300-0664 |
| ispartof | Clinical endocrinology (Oxford), 2007-01, Vol.66 (1), p.95-102 |
| issn | 0300-0664 1365-2265 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_68394799 |
| source | Wiley Online Library - AutoHoldings Journals; MEDLINE |
| subjects | Adolescent Adrenocorticotropic Hormone - blood Adult Alleles Biological and medical sciences Chi-Square Distribution Child Child, Preschool Choristoma - blood Choristoma - pathology Endocrinopathies Female Fundamental and applied biological sciences. Psychology Gene Expression Homeodomain Proteins - genetics Humans Hypopituitarism - blood Hypopituitarism - pathology Hypothalamus. Hypophysis. Epiphysis (diseases) LIM-Homeodomain Proteins Magnetic Resonance Imaging Male Median Eminence - pathology Medical sciences Non tumoral diseases. Target tissue resistance. Benign neoplasms Pituitary Gland - pathology Pituitary Gland, Posterior Pituitary Hormones - blood Polymerase Chain Reaction - methods Polymorphism, Genetic Pregnancy Transcription Factors - genetics Vertebrates: endocrinology |
| title | Hormonal, pituitary magnetic resonance, LHX4 and HESX1 evaluation in patients with hypopituitarism and ectopic posterior pituitary lobe |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-26T17%3A55%3A10IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Hormonal,%20pituitary%20magnetic%20resonance,%20LHX4%20and%20HESX1%20evaluation%20in%20patients%20with%20hypopituitarism%20and%20ectopic%20posterior%20pituitary%20lobe&rft.jtitle=Clinical%20endocrinology%20(Oxford)&rft.au=Melo,%20Maria%20Edna&rft.date=2007-01&rft.volume=66&rft.issue=1&rft.spage=95&rft.epage=102&rft.pages=95-102&rft.issn=0300-0664&rft.eissn=1365-2265&rft.coden=CLECAP&rft_id=info:doi/10.1111/j.1365-2265.2006.02692.x&rft_dat=%3Cproquest_cross%3E68394799%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=68394799&rft_id=info:pmid/17201807&rfr_iscdi=true |