The Pathophysiology and Genetics of Congenital Lipoid Adrenal Hyperplasia
Patients with congenital lipoid adrenal hyperplasia, the most severe genetic disorder of steroid hormone biosynthesis, have a severe defect in the conversion of cholesterol to pregnenolone, the first step in adrenal and gonadal steroidogenesis. Deficient fetal testicular steroidogenesis in patients...
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| Veröffentlicht in: | The New England journal of medicine 1996-12, Vol.335 (25), p.1870-1879 |
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| container_end_page | 1879 |
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| container_issue | 25 |
| container_start_page | 1870 |
| container_title | The New England journal of medicine |
| container_volume | 335 |
| creator | Bose, Himangshu S Sugawara, Teruo Strauss, Jerome F Miller, Walter L |
| description | Patients with congenital lipoid adrenal hyperplasia, the most severe genetic disorder of steroid hormone biosynthesis, have a severe defect in the conversion of cholesterol to pregnenolone, the first step in adrenal and gonadal steroidogenesis. Deficient fetal testicular steroidogenesis in patients with a 46,XY karyotype results in phenotypically normal female genitalia. The adrenal cortex becomes engorged with cholesterol and cholesterol esters; deficient adrenal steroidogenesis leads to salt wasting, hyponatremia, hypovolemia, hyperkalemia, acidosis, and death in infancy,
1
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although patients can survive to adulthood with appropriate mineralocorticoid- and glucocorticoid-replacement therapy.
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Some affected infants have immediate signs of mineralocorticoid deficiency, but others . . . |
| doi_str_mv | 10.1056/NEJM199612193352503 |
| format | Article |
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1
,
2
although patients can survive to adulthood with appropriate mineralocorticoid- and glucocorticoid-replacement therapy.
3
,
4
Some affected infants have immediate signs of mineralocorticoid deficiency, but others . . .</description><identifier>ISSN: 0028-4793</identifier><identifier>EISSN: 1533-4406</identifier><identifier>DOI: 10.1056/NEJM199612193352503</identifier><identifier>PMID: 8948562</identifier><identifier>CODEN: NEJMAG</identifier><language>eng</language><publisher>Boston, MA: Massachusetts Medical Society</publisher><subject>Adrenal glands ; Adrenal Glands - cytology ; Adrenal Glands - physiopathology ; Adrenal Hyperplasia, Congenital - diagnosis ; Adrenal Hyperplasia, Congenital - genetics ; Adrenal Hyperplasia, Congenital - physiopathology ; Adrenals. Adrenal axis. Renin-angiotensin system (diseases) ; Biological and medical sciences ; Cholesterol ; Cloning ; Defects ; Endocrinopathies ; Female ; Females ; Frameshift Mutation ; Genetic Testing ; Humans ; Infant ; Infant, Newborn ; Male ; Medical sciences ; Mutation ; Non tumoral diseases. Target tissue resistance. Benign neoplasms ; Phenotype ; Phosphoproteins - genetics</subject><ispartof>The New England journal of medicine, 1996-12, Vol.335 (25), p.1870-1879</ispartof><rights>Copyright © 1996 Massachusetts Medical Society. All rights reserved.</rights><rights>1997 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c580t-e853c6c2996d8c355876ee33b0742fb77ab671c1349121905d171db1b4a4223e3</citedby><cites>FETCH-LOGICAL-c580t-e853c6c2996d8c355876ee33b0742fb77ab671c1349121905d171db1b4a4223e3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.nejm.org/doi/pdf/10.1056/NEJM199612193352503$$EPDF$$P50$$Gmms$$H</linktopdf><linktohtml>$$Uhttps://www.nejm.org/doi/full/10.1056/NEJM199612193352503$$EHTML$$P50$$Gmms$$H</linktohtml><link.rule.ids>314,776,780,2746,2747,26080,27901,27902,52357,54039</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2524159$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8948562$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Bose, Himangshu S</creatorcontrib><creatorcontrib>Sugawara, Teruo</creatorcontrib><creatorcontrib>Strauss, Jerome F</creatorcontrib><creatorcontrib>Miller, Walter L</creatorcontrib><creatorcontrib>International Congenital Lipoid Adrenal Hyperplasia Consortium</creatorcontrib><title>The Pathophysiology and Genetics of Congenital Lipoid Adrenal Hyperplasia</title><title>The New England journal of medicine</title><addtitle>N Engl J Med</addtitle><description>Patients with congenital lipoid adrenal hyperplasia, the most severe genetic disorder of steroid hormone biosynthesis, have a severe defect in the conversion of cholesterol to pregnenolone, the first step in adrenal and gonadal steroidogenesis. Deficient fetal testicular steroidogenesis in patients with a 46,XY karyotype results in phenotypically normal female genitalia. The adrenal cortex becomes engorged with cholesterol and cholesterol esters; deficient adrenal steroidogenesis leads to salt wasting, hyponatremia, hypovolemia, hyperkalemia, acidosis, and death in infancy,
1
,
2
although patients can survive to adulthood with appropriate mineralocorticoid- and glucocorticoid-replacement therapy.
3
,
4
Some affected infants have immediate signs of mineralocorticoid deficiency, but others . . .</description><subject>Adrenal glands</subject><subject>Adrenal Glands - cytology</subject><subject>Adrenal Glands - physiopathology</subject><subject>Adrenal Hyperplasia, Congenital - diagnosis</subject><subject>Adrenal Hyperplasia, Congenital - genetics</subject><subject>Adrenal Hyperplasia, Congenital - physiopathology</subject><subject>Adrenals. Adrenal axis. Renin-angiotensin system (diseases)</subject><subject>Biological and medical sciences</subject><subject>Cholesterol</subject><subject>Cloning</subject><subject>Defects</subject><subject>Endocrinopathies</subject><subject>Female</subject><subject>Females</subject><subject>Frameshift Mutation</subject><subject>Genetic Testing</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Mutation</subject><subject>Non tumoral diseases. Target tissue resistance. Benign neoplasms</subject><subject>Phenotype</subject><subject>Phosphoproteins - genetics</subject><issn>0028-4793</issn><issn>1533-4406</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1996</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BEC</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNqFkctO6zAQhi0Egh7gCRBShBCbo4Cvsb1EFVeVywLWkeNMqKskDna66NvjqhWLI3SYzWg038w_F4ROCL4kWBRXzzePT0TrglCiGRNUYLaDJkQwlnOOi100wZiqnEvNDtCfGBc4GeF6H-0rzZUo6AQ9vM0hezXj3A_zVXS-9R-rzPR1dgc9jM7GzDfZ1Pcf0LvRtNnMDd7V2XUdoE_h_WqAMLQmOnOE9hrTRjje-kP0fnvzNr3PZy93D9PrWW6FwmMOSjBbWJrmrpVlQihZADBWYclpU0lpqkISSxjX672wqIkkdUUqbjilDNghutj0HYL_XEIcy85FC21revDLWEolpCSc_woSoSlNB0rg2T_gwi9DWi-WSVErTtQaYhvIBh9jgKYcgutMWJUEl-t3lD-8I1Wdblsvqw7q75rt_VP-fJs30Zq2Caa3Ln5jVFCexkzY3w3WdbHsYdH9V_QLOkKbqg</recordid><startdate>19961219</startdate><enddate>19961219</enddate><creator>Bose, Himangshu S</creator><creator>Sugawara, Teruo</creator><creator>Strauss, Jerome F</creator><creator>Miller, Walter L</creator><general>Massachusetts Medical Society</general><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>0TZ</scope><scope>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>8AO</scope><scope>8C1</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AN0</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BEC</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>HCIFZ</scope><scope>K0Y</scope><scope>LK8</scope><scope>M0R</scope><scope>M0T</scope><scope>M1P</scope><scope>M2M</scope><scope>M2O</scope><scope>M2P</scope><scope>M7P</scope><scope>MBDVC</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>19961219</creationdate><title>The Pathophysiology and Genetics of Congenital Lipoid Adrenal Hyperplasia</title><author>Bose, Himangshu S ; Sugawara, Teruo ; Strauss, Jerome F ; Miller, Walter L</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c580t-e853c6c2996d8c355876ee33b0742fb77ab671c1349121905d171db1b4a4223e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1996</creationdate><topic>Adrenal glands</topic><topic>Adrenal Glands - cytology</topic><topic>Adrenal Glands - physiopathology</topic><topic>Adrenal Hyperplasia, Congenital - diagnosis</topic><topic>Adrenal Hyperplasia, Congenital - genetics</topic><topic>Adrenal Hyperplasia, Congenital - physiopathology</topic><topic>Adrenals. Adrenal axis. Renin-angiotensin system (diseases)</topic><topic>Biological and medical sciences</topic><topic>Cholesterol</topic><topic>Cloning</topic><topic>Defects</topic><topic>Endocrinopathies</topic><topic>Female</topic><topic>Females</topic><topic>Frameshift Mutation</topic><topic>Genetic Testing</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Mutation</topic><topic>Non tumoral diseases. Target tissue resistance. Benign neoplasms</topic><topic>Phenotype</topic><topic>Phosphoproteins - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Bose, Himangshu S</creatorcontrib><creatorcontrib>Sugawara, Teruo</creatorcontrib><creatorcontrib>Strauss, Jerome F</creatorcontrib><creatorcontrib>Miller, Walter L</creatorcontrib><creatorcontrib>International Congenital Lipoid Adrenal Hyperplasia Consortium</creatorcontrib><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>Pharma and Biotech Premium PRO</collection><collection>Nursing & Allied Health Database</collection><collection>Health Medical collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central UK/Ireland</collection><collection>British Nursing Database</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>eLibrary</collection><collection>ProQuest Central</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>SciTech Premium Collection</collection><collection>New England Journal of Medicine</collection><collection>Biological Sciences</collection><collection>Consumer Health Database</collection><collection>Healthcare Administration Database</collection><collection>Medical Database</collection><collection>Psychology Database</collection><collection>ProQuest research library</collection><collection>ProQuest Science Journals</collection><collection>Biological Science Database</collection><collection>Research Library (Corporate)</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest One Psychology</collection><collection>ProQuest Central Basic</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>The New England journal of medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Bose, Himangshu S</au><au>Sugawara, Teruo</au><au>Strauss, Jerome F</au><au>Miller, Walter L</au><aucorp>International Congenital Lipoid Adrenal Hyperplasia Consortium</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The Pathophysiology and Genetics of Congenital Lipoid Adrenal Hyperplasia</atitle><jtitle>The New England journal of medicine</jtitle><addtitle>N Engl J Med</addtitle><date>1996-12-19</date><risdate>1996</risdate><volume>335</volume><issue>25</issue><spage>1870</spage><epage>1879</epage><pages>1870-1879</pages><issn>0028-4793</issn><eissn>1533-4406</eissn><coden>NEJMAG</coden><abstract>Patients with congenital lipoid adrenal hyperplasia, the most severe genetic disorder of steroid hormone biosynthesis, have a severe defect in the conversion of cholesterol to pregnenolone, the first step in adrenal and gonadal steroidogenesis. Deficient fetal testicular steroidogenesis in patients with a 46,XY karyotype results in phenotypically normal female genitalia. The adrenal cortex becomes engorged with cholesterol and cholesterol esters; deficient adrenal steroidogenesis leads to salt wasting, hyponatremia, hypovolemia, hyperkalemia, acidosis, and death in infancy,
1
,
2
although patients can survive to adulthood with appropriate mineralocorticoid- and glucocorticoid-replacement therapy.
3
,
4
Some affected infants have immediate signs of mineralocorticoid deficiency, but others . . .</abstract><cop>Boston, MA</cop><pub>Massachusetts Medical Society</pub><pmid>8948562</pmid><doi>10.1056/NEJM199612193352503</doi><tpages>10</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0028-4793 |
| ispartof | The New England journal of medicine, 1996-12, Vol.335 (25), p.1870-1879 |
| issn | 0028-4793 1533-4406 |
| language | eng |
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| source | MEDLINE; EZB Electronic Journals Library; New England Journal of Medicine |
| subjects | Adrenal glands Adrenal Glands - cytology Adrenal Glands - physiopathology Adrenal Hyperplasia, Congenital - diagnosis Adrenal Hyperplasia, Congenital - genetics Adrenal Hyperplasia, Congenital - physiopathology Adrenals. Adrenal axis. Renin-angiotensin system (diseases) Biological and medical sciences Cholesterol Cloning Defects Endocrinopathies Female Females Frameshift Mutation Genetic Testing Humans Infant Infant, Newborn Male Medical sciences Mutation Non tumoral diseases. Target tissue resistance. Benign neoplasms Phenotype Phosphoproteins - genetics |
| title | The Pathophysiology and Genetics of Congenital Lipoid Adrenal Hyperplasia |
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