Role of the pentanucleotide (tttta)n polymorphism in the promoter of the CYP11a gene in the pathogenesis of hirsutism
Identifieur interne : 001284 ( Istex/Corpus ); précédent : 001283; suivant : 001285Role of the pentanucleotide (tttta)n polymorphism in the promoter of the CYP11a gene in the pathogenesis of hirsutism
Auteurs : José L. San Millán ; José Sancho ; Rosa M. Calvo ; Héctor F. Escobar-MorrealeSource :
- Fertility and Sterility [ 0015-0282 ] ; 2001.
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Abstract
Objective: To determine if the (tttta)n repeat polymorphism in the promoter region of CYP11a gene is associated with hirsutism and hyperandrogenism in women from Spain. Design: Controlled clinical study. Setting: Tertiary-care institutional hospital. Patient(s): Ninety-two hirsute women and 33 healthy control women. Intervention(s): Basal and adrenocorticotropin-stimulated serum samples and genomic DNA extracted and purified from whole-blood samples were obtained during the follicular phase of the menstrual cycle. Main Outcome Measure(s): CYP11a (tttta)n repeat-polymorphism genotype and serum ovarian and adrenal androgen levels. Result(s): None of the CYP11a (tttta)n polymorphic alleles was associated with hirsutism. The absence of the four–repeat-units allele (4R− genotype), which has been reported by other authors to be associated with polycystic ovary syndrome (PCOS), was found in 22.4% of the women studied here and was equally distributed among patients and controls, independently of the presence of PCOS and/or ovarian or adrenal hyperandrogenism. No differences were observed in serum hormone concentrations in 4R− individuals as compared with subjects with at least one four–repeat-units allele. Conclusion(s): The (tttta)n repeat polymorphism in the promoter region of CYP11a does not appear to play any significant role in the pathogenesis of hirsutism and hyperandrogenism in women from Spain.
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DOI: 10.1016/S0015-0282(01)01677-6
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San Millán</name><affiliation><mods:affiliation>Department of Molecular Genetics, Hospital Ramón y Cajal, Madrid, Spain</mods:affiliation></affiliation></author><author><name sortKey="Sancho, Jose" sort="Sancho, Jose" uniqKey="Sancho J" first="José" last="Sancho">José Sancho</name><affiliation><mods:affiliation>Department of Endocrinology, Hospital Ramón y Cajal, Madrid, Spain</mods:affiliation></affiliation></author><author><name sortKey="Calvo, Rosa M" sort="Calvo, Rosa M" uniqKey="Calvo R" first="Rosa M" last="Calvo">Rosa M. Calvo</name><affiliation><mods:affiliation>Department of Endocrinology, Hospital Ramón y Cajal, Madrid, Spain</mods:affiliation></affiliation></author><author><name sortKey="Escobar Morreale, Hector F" sort="Escobar Morreale, Hector F" uniqKey="Escobar Morreale H" first="Héctor F" last="Escobar-Morreale">Héctor F. Escobar-Morreale</name><affiliation><mods:affiliation>E-mail: hector.escobar@uam.es</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Endocrinology, Hospital Ramón y Cajal, Madrid, Spain</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Fertility and Sterility</title><title level="j" type="abbrev">FNS</title><idno type="ISSN">0015-0282</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="2001">2001</date><biblScope unit="volume">75</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="797">797</biblScope><biblScope unit="page" to="802">802</biblScope></imprint><idno type="ISSN">0015-0282</idno></series><idno type="istex">9D0F562AD43D8BF3E23674C648D5C245521D7771</idno><idno type="DOI">10.1016/S0015-0282(01)01677-6</idno><idno type="PII">S0015-0282(01)01677-6</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0015-0282</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>CYP11a gene</term><term>hirsutism</term><term>hyperandrogenism</term><term>molecular genetics</term><term>polycystic ovary syndrome</term><term>polymorphism</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Objective: To determine if the (tttta)n repeat polymorphism in the promoter region of CYP11a gene is associated with hirsutism and hyperandrogenism in women from Spain. Design: Controlled clinical study. Setting: Tertiary-care institutional hospital. Patient(s): Ninety-two hirsute women and 33 healthy control women. Intervention(s): Basal and adrenocorticotropin-stimulated serum samples and genomic DNA extracted and purified from whole-blood samples were obtained during the follicular phase of the menstrual cycle. Main Outcome Measure(s): CYP11a (tttta)n repeat-polymorphism genotype and serum ovarian and adrenal androgen levels. Result(s): None of the CYP11a (tttta)n polymorphic alleles was associated with hirsutism. The absence of the four–repeat-units allele (4R− genotype), which has been reported by other authors to be associated with polycystic ovary syndrome (PCOS), was found in 22.4% of the women studied here and was equally distributed among patients and controls, independently of the presence of PCOS and/or ovarian or adrenal hyperandrogenism. No differences were observed in serum hormone concentrations in 4R− individuals as compared with subjects with at least one four–repeat-units allele. Conclusion(s): The (tttta)n repeat polymorphism in the promoter region of CYP11a does not appear to play any significant role in the pathogenesis of hirsutism and hyperandrogenism in women from Spain.</div></front></TEI><istex><corpusName>elsevier</corpusName><author><json:item><name>José L San Millán Ph.D.</name><affiliations><json:string>Department of Molecular Genetics, Hospital Ramón y Cajal, Madrid, Spain</json:string></affiliations></json:item><json:item><name>José Sancho M.D., Ph.D.</name><affiliations><json:string>Department of Endocrinology, Hospital Ramón y Cajal, Madrid, Spain</json:string></affiliations></json:item><json:item><name>Rosa M Calvo Ph.D.</name><affiliations><json:string>Department of Endocrinology, Hospital Ramón y Cajal, Madrid, Spain</json:string></affiliations></json:item><json:item><name>Héctor F Escobar-Morreale M.D., Ph.D.</name><affiliations><json:string>E-mail: hector.escobar@uam.es</json:string><json:string>Department of Endocrinology, Hospital Ramón y Cajal, Madrid, Spain</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Reproductive biology</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>CYP11a gene</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>hirsutism</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>hyperandrogenism</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>polycystic ovary syndrome</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>polymorphism</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>molecular genetics</value></json:item></subject><language><json:string>eng</json:string></language><originalGenre><json:string>Full-length article</json:string></originalGenre><abstract>Objective: To determine if the (tttta)n repeat polymorphism in the promoter region of CYP11a gene is associated with hirsutism and hyperandrogenism in women from Spain. Design: Controlled clinical study. Setting: Tertiary-care institutional hospital. Patient(s): Ninety-two hirsute women and 33 healthy control women. Intervention(s): Basal and adrenocorticotropin-stimulated serum samples and genomic DNA extracted and purified from whole-blood samples were obtained during the follicular phase of the menstrual cycle. Main Outcome Measure(s): CYP11a (tttta)n repeat-polymorphism genotype and serum ovarian and adrenal androgen levels. Result(s): None of the CYP11a (tttta)n polymorphic alleles was associated with hirsutism. The absence of the four–repeat-units allele (4R− genotype), which has been reported by other authors to be associated with polycystic ovary syndrome (PCOS), was found in 22.4% of the women studied here and was equally distributed among patients and controls, independently of the presence of PCOS and/or ovarian or adrenal hyperandrogenism. No differences were observed in serum hormone concentrations in 4R− individuals as compared with subjects with at least one four–repeat-units allele. Conclusion(s): The (tttta)n repeat polymorphism in the promoter region of CYP11a does not appear to play any significant role in the pathogenesis of hirsutism and hyperandrogenism in women from Spain.</abstract><qualityIndicators><score>6.381</score><pdfVersion>1.2</pdfVersion><pdfPageSize>586 x 786 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>7</keywordCount><abstractCharCount>1418</abstractCharCount><pdfWordCount>4041</pdfWordCount><pdfCharCount>25614</pdfCharCount><pdfPageCount>6</pdfPageCount><abstractWordCount>195</abstractWordCount></qualityIndicators><title>Role of the pentanucleotide (tttta)n polymorphism in the promoter of the CYP11a gene in the pathogenesis of hirsutism</title><pii><json:string>S0015-0282(01)01677-6</json:string></pii><refBibs><json:item><author><json:item><name>H Escobar-Morreale</name></json:item><json:item><name>F Pazos</name></json:item><json:item><name>N Potau</name></json:item><json:item><name>R 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sciences</json:string><json:string>clinical medicine</json:string><json:string>obstetrics & reproductive medicine</json:string></scienceMetrix></categories><publicationDate>2001</publicationDate><copyrightDate>2001</copyrightDate><doi><json:string>10.1016/S0015-0282(01)01677-6</json:string></doi><id>9D0F562AD43D8BF3E23674C648D5C245521D7771</id><score>0.024394073</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/9D0F562AD43D8BF3E23674C648D5C245521D7771/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/9D0F562AD43D8BF3E23674C648D5C245521D7771/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/9D0F562AD43D8BF3E23674C648D5C245521D7771/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Role of the pentanucleotide (tttta)n polymorphism in the promoter of the CYP11a gene in the pathogenesis of hirsutism</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>ELSEVIER</publisher><availability><p>©2001 American Society for Reproductive Medicine</p></availability><date>2001</date></publicationStmt><notesStmt><note>Supported by grants from Consejerı́a de Investigación y Cultura, Comunidad de Madrid (Proyecto 08.6/0022/1998), and Fondo de Investigación Sanitaria, Ministerio de Sanidad y Consumo (Proyecto FIS 00/0414), Spain.</note><note type="content">Section title: Reproductive biology</note><note type="content">TABLE 1: Distribution of the CYP11a(ttta)n polymorphism genotype among hirsute patients and healthy control women.legend</note><note type="content">TABLE 2: Basal and ACTH-stimulated serum hormone concentrations in 4R− and 4R+ individuals, considering patients and controls as a whole (n = 125), considering hirsute patients alone (n = 92), or considering only patients diagnosed with the polycystic ovary syndrome (n = 34).legend legend</note><note type="content">TABLE 3: Adrenal enzyme activities in 4R− and 4R+ individuals, considering patients (n = 92) and healthy controls (n = 33) as a whole.legend legend</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Role of the pentanucleotide (tttta)n polymorphism in the promoter of the CYP11a gene in the pathogenesis of hirsutism</title><author xml:id="author-1"><persName><forename type="first">José L</forename><surname>San Millán</surname></persName><roleName type="degree">Ph.D.</roleName><affiliation>Department of Molecular Genetics, Hospital Ramón y Cajal, Madrid, Spain</affiliation></author><author xml:id="author-2"><persName><forename type="first">José</forename><surname>Sancho</surname></persName><roleName type="degree">M.D., Ph.D.</roleName><affiliation>Department of Endocrinology, Hospital Ramón y Cajal, Madrid, Spain</affiliation></author><author xml:id="author-3"><persName><forename type="first">Rosa M</forename><surname>Calvo</surname></persName><roleName type="degree">Ph.D.</roleName><affiliation>Department of Endocrinology, Hospital Ramón y Cajal, Madrid, Spain</affiliation></author><author xml:id="author-4"><persName><forename type="first">Héctor F</forename><surname>Escobar-Morreale</surname></persName><roleName type="degree">M.D., Ph.D.</roleName><email>hector.escobar@uam.es</email><note type="biography">Reprint requests: Héctor F. Escobar-Morreale, M.D., Ph.D., Department of Endocrinology, Hospital Ramón y Cajal, Carretera de Colmenar Km 9’1, Madrid 28034, Spain (FAX: 34-91-336 9016;</note><affiliation>Reprint requests: Héctor F. Escobar-Morreale, M.D., Ph.D., Department of Endocrinology, Hospital Ramón y Cajal, Carretera de Colmenar Km 9’1, Madrid 28034, Spain (FAX: 34-91-336 9016;</affiliation><affiliation>Department of Endocrinology, Hospital Ramón y Cajal, Madrid, Spain</affiliation></author></analytic><monogr><title level="j">Fertility and Sterility</title><title level="j" type="abbrev">FNS</title><idno type="pISSN">0015-0282</idno><idno type="PII">S0015-0282(00)X0056-8</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="2001"></date><biblScope unit="volume">75</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="797">797</biblScope><biblScope unit="page" to="802">802</biblScope></imprint></monogr><idno type="istex">9D0F562AD43D8BF3E23674C648D5C245521D7771</idno><idno type="DOI">10.1016/S0015-0282(01)01677-6</idno><idno type="PII">S0015-0282(01)01677-6</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2001</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Objective: To determine if the (tttta)n repeat polymorphism in the promoter region of CYP11a gene is associated with hirsutism and hyperandrogenism in women from Spain. Design: Controlled clinical study. Setting: Tertiary-care institutional hospital. Patient(s): Ninety-two hirsute women and 33 healthy control women. Intervention(s): Basal and adrenocorticotropin-stimulated serum samples and genomic DNA extracted and purified from whole-blood samples were obtained during the follicular phase of the menstrual cycle. Main Outcome Measure(s): CYP11a (tttta)n repeat-polymorphism genotype and serum ovarian and adrenal androgen levels. Result(s): None of the CYP11a (tttta)n polymorphic alleles was associated with hirsutism. The absence of the four–repeat-units allele (4R− genotype), which has been reported by other authors to be associated with polycystic ovary syndrome (PCOS), was found in 22.4% of the women studied here and was equally distributed among patients and controls, independently of the presence of PCOS and/or ovarian or adrenal hyperandrogenism. No differences were observed in serum hormone concentrations in 4R− individuals as compared with subjects with at least one four–repeat-units allele. Conclusion(s): The (tttta)n repeat polymorphism in the promoter region of CYP11a does not appear to play any significant role in the pathogenesis of hirsutism and hyperandrogenism in women from Spain.</p></abstract><textClass><keywords scheme="keyword"><list><head>article-category</head><item><term>Reproductive biology</term></item></list></keywords></textClass><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>CYP11a gene</term></item><item><term>hirsutism</term></item><item><term>hyperandrogenism</term></item><item><term>polycystic ovary syndrome</term></item><item><term>polymorphism</term></item><item><term>molecular genetics</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2000-10-26">Modified</change><change when="2001">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/9D0F562AD43D8BF3E23674C648D5C245521D7771/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Elsevier, elements deleted: ce:floats; body; tail"><istex:xmlDeclaration>version="1.0" encoding="utf-8"</istex:xmlDeclaration><istex:docType PUBLIC="-//ES//DTD journal article DTD version 4.5.2//EN//XML" URI="art452.dtd" name="istex:docType"></istex:docType><istex:document><converted-article version="4.5.2" docsubtype="fla" xml:lang="en"><item-info><jid>FNS</jid><aid>8063</aid><ce:pii>S0015-0282(01)01677-6</ce:pii><ce:doi>10.1016/S0015-0282(01)01677-6</ce:doi><ce:copyright type="society" year="2001">American Society for Reproductive Medicine</ce:copyright><ce:doctopics><ce:doctopic><ce:text>Reproductive biology</ce:text></ce:doctopic></ce:doctopics></item-info><head><ce:article-footnote><ce:label>☆</ce:label><ce:note-para>Supported by grants from Consejerı́a de Investigación y Cultura, Comunidad de Madrid (Proyecto 08.6/0022/1998), and Fondo de Investigación Sanitaria, Ministerio de Sanidad y Consumo (Proyecto FIS 00/0414), Spain.</ce:note-para></ce:article-footnote><ce:dochead><ce:textfn>Reproductive biology</ce:textfn></ce:dochead><ce:title>Role of the pentanucleotide (tttta)<ce:inf>n</ce:inf> polymorphism in the promoter of the CYP11a gene in the pathogenesis of hirsutism</ce:title><ce:presented>Presented in part at the Endocrine Society’s 81st Annual Meeting, San Diego, California, June 12–15, 1999.</ce:presented><ce:author-group><ce:author><ce:indexed-name>San Millan</ce:indexed-name><ce:given-name>José L</ce:given-name><ce:surname>San Millán</ce:surname><ce:degrees>Ph.D.</ce:degrees><ce:cross-ref refid="AFF1"><ce:sup>a</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>José</ce:given-name><ce:surname>Sancho</ce:surname><ce:degrees>M.D., Ph.D.</ce:degrees><ce:cross-ref refid="AFF2"><ce:sup>b</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>Rosa M</ce:given-name><ce:surname>Calvo</ce:surname><ce:degrees>Ph.D.</ce:degrees><ce:cross-ref refid="AFF2"><ce:sup>b</ce:sup></ce:cross-ref></ce:author><ce:author><ce:given-name>Héctor F</ce:given-name><ce:surname>Escobar-Morreale</ce:surname><ce:degrees>M.D., Ph.D.</ce:degrees><ce:cross-ref refid="AFF2"><ce:sup>b</ce:sup></ce:cross-ref><ce:cross-ref refid="CORR1">*</ce:cross-ref><ce:e-address>hector.escobar@uam.es</ce:e-address></ce:author><ce:affiliation id="AFF1"><ce:label>a</ce:label><ce:textfn>Department of Molecular Genetics, Hospital Ramón y Cajal, Madrid, Spain</ce:textfn></ce:affiliation><ce:affiliation id="AFF2"><ce:label>b</ce:label><ce:textfn>Department of Endocrinology, Hospital Ramón y Cajal, Madrid, Spain</ce:textfn></ce:affiliation><ce:correspondence id="CORR1"><ce:label>*</ce:label><ce:text>Reprint requests: Héctor F. Escobar-Morreale, M.D., Ph.D., Department of Endocrinology, Hospital Ramón y Cajal, Carretera de Colmenar Km 9’1, Madrid 28034, Spain (FAX: 34-91-336 9016;</ce:text></ce:correspondence></ce:author-group><ce:date-received day="21" month="8" year="2000"></ce:date-received><ce:date-revised day="26" month="10" year="2000"></ce:date-revised><ce:date-accepted day="26" month="10" year="2000"></ce:date-accepted><ce:abstract><ce:section-title>Abstract</ce:section-title><ce:abstract-sec><ce:simple-para>Objective: To determine if the (tttta)<ce:inf>n</ce:inf> repeat polymorphism in the promoter region of CYP11a gene is associated with hirsutism and hyperandrogenism in women from Spain.</ce:simple-para><ce:simple-para>Design: Controlled clinical study.</ce:simple-para><ce:simple-para>Setting: Tertiary-care institutional hospital.</ce:simple-para><ce:simple-para>Patient(s): Ninety-two hirsute women and 33 healthy control women.</ce:simple-para><ce:simple-para>Intervention(s): Basal and adrenocorticotropin-stimulated serum samples and genomic DNA extracted and purified from whole-blood samples were obtained during the follicular phase of the menstrual cycle.</ce:simple-para><ce:simple-para>Main Outcome Measure(s): CYP11a (tttta)<ce:inf>n</ce:inf> repeat-polymorphism genotype and serum ovarian and adrenal androgen levels.</ce:simple-para><ce:simple-para>Result(s): None of the CYP11a (tttta)<ce:inf>n</ce:inf> polymorphic alleles was associated with hirsutism. The absence of the four–repeat-units allele (4R− genotype), which has been reported by other authors to be associated with polycystic ovary syndrome (PCOS), was found in 22.4% of the women studied here and was equally distributed among patients and controls, independently of the presence of PCOS and/or ovarian or adrenal hyperandrogenism. No differences were observed in serum hormone concentrations in 4R− individuals as compared with subjects with at least one four–repeat-units allele.</ce:simple-para><ce:simple-para>Conclusion(s): The (tttta)<ce:inf>n</ce:inf> repeat polymorphism in the promoter region of CYP11a does not appear to play any significant role in the pathogenesis of hirsutism and hyperandrogenism in women from Spain.</ce:simple-para></ce:abstract-sec></ce:abstract><ce:keywords class="keyword"><ce:section-title>Keywords</ce:section-title><ce:keyword><ce:text>CYP11a gene</ce:text></ce:keyword><ce:keyword><ce:text>hirsutism</ce:text></ce:keyword><ce:keyword><ce:text>hyperandrogenism</ce:text></ce:keyword><ce:keyword><ce:text>polycystic ovary syndrome</ce:text></ce:keyword><ce:keyword><ce:text>polymorphism</ce:text></ce:keyword><ce:keyword><ce:text>molecular genetics</ce:text></ce:keyword></ce:keywords></head></converted-article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Role of the pentanucleotide (tttta)n polymorphism in the promoter of the CYP11a gene in the pathogenesis of hirsutism</title></titleInfo><titleInfo type="alternative" lang="en" contentType="CDATA"><title>Role of the pentanucleotide (tttta)</title></titleInfo><name type="personal"><namePart type="given">José L</namePart><namePart type="family">San Millán</namePart><namePart type="termsOfAddress">Ph.D.</namePart><affiliation>Department of Molecular Genetics, Hospital Ramón y Cajal, Madrid, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">José</namePart><namePart type="family">Sancho</namePart><namePart type="termsOfAddress">M.D., Ph.D.</namePart><affiliation>Department of Endocrinology, Hospital Ramón y Cajal, Madrid, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Rosa M</namePart><namePart type="family">Calvo</namePart><namePart type="termsOfAddress">Ph.D.</namePart><affiliation>Department of Endocrinology, Hospital Ramón y Cajal, Madrid, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Héctor F</namePart><namePart type="family">Escobar-Morreale</namePart><namePart type="termsOfAddress">M.D., Ph.D.</namePart><affiliation>E-mail: hector.escobar@uam.es</affiliation><affiliation>Department of Endocrinology, Hospital Ramón y Cajal, Madrid, Spain</affiliation><description>Reprint requests: Héctor F. Escobar-Morreale, M.D., Ph.D., Department of Endocrinology, Hospital Ramón y Cajal, Carretera de Colmenar Km 9’1, Madrid 28034, Spain (FAX: 34-91-336 9016;</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="Full-length article"></genre><originInfo><publisher>ELSEVIER</publisher><dateIssued encoding="w3cdtf">2001</dateIssued><dateModified encoding="w3cdtf">2000-10-26</dateModified><copyrightDate encoding="w3cdtf">2001</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><abstract lang="en">Objective: To determine if the (tttta)n repeat polymorphism in the promoter region of CYP11a gene is associated with hirsutism and hyperandrogenism in women from Spain. Design: Controlled clinical study. Setting: Tertiary-care institutional hospital. Patient(s): Ninety-two hirsute women and 33 healthy control women. Intervention(s): Basal and adrenocorticotropin-stimulated serum samples and genomic DNA extracted and purified from whole-blood samples were obtained during the follicular phase of the menstrual cycle. Main Outcome Measure(s): CYP11a (tttta)n repeat-polymorphism genotype and serum ovarian and adrenal androgen levels. Result(s): None of the CYP11a (tttta)n polymorphic alleles was associated with hirsutism. The absence of the four–repeat-units allele (4R− genotype), which has been reported by other authors to be associated with polycystic ovary syndrome (PCOS), was found in 22.4% of the women studied here and was equally distributed among patients and controls, independently of the presence of PCOS and/or ovarian or adrenal hyperandrogenism. No differences were observed in serum hormone concentrations in 4R− individuals as compared with subjects with at least one four–repeat-units allele. Conclusion(s): The (tttta)n repeat polymorphism in the promoter region of CYP11a does not appear to play any significant role in the pathogenesis of hirsutism and hyperandrogenism in women from Spain.</abstract><note>Supported by grants from Consejerı́a de Investigación y Cultura, Comunidad de Madrid (Proyecto 08.6/0022/1998), and Fondo de Investigación Sanitaria, Ministerio de Sanidad y Consumo (Proyecto FIS 00/0414), Spain.</note><note type="content">Section title: Reproductive biology</note><note type="content">TABLE 1: Distribution of the CYP11a(ttta)n polymorphism genotype among hirsute patients and healthy control women.legend</note><note type="content">TABLE 2: Basal and ACTH-stimulated serum hormone concentrations in 4R− and 4R+ individuals, considering patients and controls as a whole (n = 125), considering hirsute patients alone (n = 92), or considering only patients diagnosed with the polycystic ovary syndrome (n = 34).legend legend</note><note type="content">TABLE 3: Adrenal enzyme activities in 4R− and 4R+ individuals, considering patients (n = 92) and healthy controls (n = 33) as a whole.legend legend</note><subject><genre>article-category</genre><topic>Reproductive biology</topic></subject><subject lang="en"><genre>Keywords</genre><topic>CYP11a gene</topic><topic>hirsutism</topic><topic>hyperandrogenism</topic><topic>polycystic ovary syndrome</topic><topic>polymorphism</topic><topic>molecular genetics</topic></subject><relatedItem type="host"><titleInfo><title>Fertility and Sterility</title></titleInfo><titleInfo type="abbreviated"><title>FNS</title></titleInfo><genre type="journal">journal</genre><originInfo><dateIssued encoding="w3cdtf">200104</dateIssued></originInfo><identifier type="ISSN">0015-0282</identifier><identifier type="PII">S0015-0282(00)X0056-8</identifier><part><date>200104</date><detail type="volume"><number>75</number><caption>vol.</caption></detail><detail type="issue"><number>4</number><caption>no.</caption></detail><extent unit="issue pages"><start>A1</start><end>A36</end></extent><extent unit="issue pages"><start>B1</start><end>B24</end></extent><extent unit="issue pages"><start>647</start><end>842</end></extent><extent unit="pages"><start>797</start><end>802</end></extent></part></relatedItem><identifier type="istex">9D0F562AD43D8BF3E23674C648D5C245521D7771</identifier><identifier type="DOI">10.1016/S0015-0282(01)01677-6</identifier><identifier type="PII">S0015-0282(01)01677-6</identifier><accessCondition type="use and reproduction" contentType="copyright">©2001 American Society for Reproductive Medicine</accessCondition><recordInfo><recordContentSource>ELSEVIER</recordContentSource><recordOrigin>American Society for Reproductive Medicine, ©2001</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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