A Prospective Study of the Prevalence of Nonclassical Congenital Adrenal Hyperplasia among Women Presenting with Hyperandrogenic Symptoms and Signs
Context: The diagnosis of the polycystic ovary syndrome requires the exclusion of nonclassical congenital adrenal hyperplasia (NCAH). Objective: Our objective was to evaluate the actual prevalences of 21-hydroxylase and 11β-hydroxylase deficiencies among women presenting with hyperandrogenic complai...
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| Veröffentlicht in: | The journal of clinical endocrinology and metabolism 2008-02, Vol.93 (2), p.527-533 |
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| creator | Escobar-Morreale, Héctor F. Sanchón, Raul San Millán, José L. |
| description | Context: The diagnosis of the polycystic ovary syndrome requires the exclusion of nonclassical congenital adrenal hyperplasia (NCAH).
Objective: Our objective was to evaluate the actual prevalences of 21-hydroxylase and 11β-hydroxylase deficiencies among women presenting with hyperandrogenic complaints.
Settings: This study was performed at an academic hospital.
Patients: A total of 270 consecutive unselected women presenting with hyperandrogenic symptoms were prospectively recruited.
Interventions: Basal and ACTH-stimulated 11-deoxycortisol and 17-hydroxyprogesterone concentrations were measured.
Main Outcome Measures: The prevalences of 21-hydroxylase and 11β-hydroxylase deficiencies were calculated, and the diagnostic performance of basal serum 17-hydroxyprogesterone levels for the screening of NCAH was evaluated by receiver operating characteristic curve analysis.
Results: Six of the 270 patients had 21-hydroxylase-deficient NCAH that was confirmed by CYP21 genotyping, whereas no patient was diagnosed with 11β-hydroxylase deficiency, for an overall NCAH prevalence of 2.2% (95% confidence limits 0.5–3.9%). According to receiver operating characteristic analysis, a single basal serum 17-hydroxyprogesterone determination has a 0.97 (95% confidence interval: 0.934–1.008) chance of detecting NCAH in hyperandrogenic women. In our experience, the most appropriate cutoff value for the detection of NCAH is a 17-hydroxyprogesterone above 1.7 ng/ml, showing a 100% sensitivity and a 88.6% specificity. Five of the six 21-hydroxylase-deficient NCAH patients carried a severe CYP21 allele requiring genetic counseling and highlighting the importance of excluding this disorder among hyperandrogenic patients.
Conclusions: The prevalence of NCAH among hyperandrogenic patients from Spain is 2.2%. Basal serum 17-hydroxyprogesterone measurements have an excellent diagnostic performance, yet the cutoff value should be established in each laboratory to avoid false-negative results. |
| doi_str_mv | 10.1210/jc.2007-2053 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_70285191</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>70285191</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4464-dae6146db337207d14964f326dbd9eaa20a24ea2243c29b763438f2445ed5b373</originalsourceid><addsrcrecordid>eNptkU-P0zAQxSMEYrsLN84oFziRxf8SJ8eqAhZpBUgFwc1yncnWJbGD7WzVz8EX3gmp4IIle6yZn5-s97LsBSXXlFHy9mCuGSGyYKTkj7IVbURZSNrIx9mKEEaLRrIfF9lljAdCqBAlf5pd0JrgqsUq-73OvwQfRzDJ3kO-TVN7yn2Xpz3gAO51D87A3Pnknel1jNboPt94dwfOJryu2wAO681phDAiYXWuB5zn3_0AblaJ4JLFxtGm_cJp1wY_K5h8exrG5IeYYy_f2jsXn2VPOt1HeH6uV9m39---bm6K288fPm7Wt4URohJFq6Giomp3nEtGZEtFU4mOM-y0DWjNiGYCNGOCG9bsZMUFrzuGFkBb7rjkV9nrRXcM_tcEManBRgN9rx34KSpJWF3ShiL4ZgENWhUDdGoMdtDhpChRcwjqYNQcgppDQPzlWXfaDdD-g8-uI_DqDOiIbnZoh7HxL4dKNRF8FhILd_R9ghB_9tMRgtqD7tNezWKiknXxh8eDFLj5LM-XZ-Bab4J1MGIGUR38FDCp-P9fPwDmMbGy</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>70285191</pqid></control><display><type>article</type><title>A Prospective Study of the Prevalence of Nonclassical Congenital Adrenal Hyperplasia among Women Presenting with Hyperandrogenic Symptoms and Signs</title><source>MEDLINE</source><source>Oxford University Press</source><source>Alma/SFX Local Collection</source><source>EZB Electronic Journals Library</source><creator>Escobar-Morreale, Héctor F. ; Sanchón, Raul ; San Millán, José L.</creator><creatorcontrib>Escobar-Morreale, Héctor F. ; Sanchón, Raul ; San Millán, José L.</creatorcontrib><description>Context: The diagnosis of the polycystic ovary syndrome requires the exclusion of nonclassical congenital adrenal hyperplasia (NCAH).
Objective: Our objective was to evaluate the actual prevalences of 21-hydroxylase and 11β-hydroxylase deficiencies among women presenting with hyperandrogenic complaints.
Settings: This study was performed at an academic hospital.
Patients: A total of 270 consecutive unselected women presenting with hyperandrogenic symptoms were prospectively recruited.
Interventions: Basal and ACTH-stimulated 11-deoxycortisol and 17-hydroxyprogesterone concentrations were measured.
Main Outcome Measures: The prevalences of 21-hydroxylase and 11β-hydroxylase deficiencies were calculated, and the diagnostic performance of basal serum 17-hydroxyprogesterone levels for the screening of NCAH was evaluated by receiver operating characteristic curve analysis.
Results: Six of the 270 patients had 21-hydroxylase-deficient NCAH that was confirmed by CYP21 genotyping, whereas no patient was diagnosed with 11β-hydroxylase deficiency, for an overall NCAH prevalence of 2.2% (95% confidence limits 0.5–3.9%). According to receiver operating characteristic analysis, a single basal serum 17-hydroxyprogesterone determination has a 0.97 (95% confidence interval: 0.934–1.008) chance of detecting NCAH in hyperandrogenic women. In our experience, the most appropriate cutoff value for the detection of NCAH is a 17-hydroxyprogesterone above 1.7 ng/ml, showing a 100% sensitivity and a 88.6% specificity. Five of the six 21-hydroxylase-deficient NCAH patients carried a severe CYP21 allele requiring genetic counseling and highlighting the importance of excluding this disorder among hyperandrogenic patients.
Conclusions: The prevalence of NCAH among hyperandrogenic patients from Spain is 2.2%. Basal serum 17-hydroxyprogesterone measurements have an excellent diagnostic performance, yet the cutoff value should be established in each laboratory to avoid false-negative results.</description><identifier>ISSN: 0021-972X</identifier><identifier>EISSN: 1945-7197</identifier><identifier>DOI: 10.1210/jc.2007-2053</identifier><identifier>PMID: 18000084</identifier><identifier>CODEN: JCEMAZ</identifier><language>eng</language><publisher>Bethesda, MD: Endocrine Society</publisher><subject>17-alpha-Hydroxyprogesterone - blood ; Adolescent ; Adrenal Hyperplasia, Congenital - blood ; Adrenal Hyperplasia, Congenital - diagnosis ; Adrenal Hyperplasia, Congenital - enzymology ; Adrenal Hyperplasia, Congenital - epidemiology ; Adrenals. Adrenal axis. Renin-angiotensin system (diseases) ; Adult ; Biological and medical sciences ; Cortodoxone - blood ; Diagnosis, Differential ; Endocrinopathies ; Feeding. Feeding behavior ; Female ; Fundamental and applied biological sciences. Psychology ; Humans ; Hyperandrogenism - blood ; Hyperandrogenism - diagnosis ; Hyperandrogenism - enzymology ; Hyperandrogenism - epidemiology ; Medical sciences ; Non tumoral diseases. Target tissue resistance. Benign neoplasms ; Polycystic Ovary Syndrome - blood ; Polycystic Ovary Syndrome - diagnosis ; Polycystic Ovary Syndrome - enzymology ; Polycystic Ovary Syndrome - epidemiology ; Prevalence ; Prospective Studies ; ROC Curve ; Sensitivity and Specificity ; Spain - epidemiology ; Steroid 11-beta-Hydroxylase - metabolism ; Steroid 21-Hydroxylase - metabolism ; Vertebrates: anatomy and physiology, studies on body, several organs or systems ; Vertebrates: endocrinology</subject><ispartof>The journal of clinical endocrinology and metabolism, 2008-02, Vol.93 (2), p.527-533</ispartof><rights>Copyright © 2008 by The Endocrine Society</rights><rights>2008 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4464-dae6146db337207d14964f326dbd9eaa20a24ea2243c29b763438f2445ed5b373</citedby><cites>FETCH-LOGICAL-c4464-dae6146db337207d14964f326dbd9eaa20a24ea2243c29b763438f2445ed5b373</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=20080433$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18000084$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Escobar-Morreale, Héctor F.</creatorcontrib><creatorcontrib>Sanchón, Raul</creatorcontrib><creatorcontrib>San Millán, José L.</creatorcontrib><title>A Prospective Study of the Prevalence of Nonclassical Congenital Adrenal Hyperplasia among Women Presenting with Hyperandrogenic Symptoms and Signs</title><title>The journal of clinical endocrinology and metabolism</title><addtitle>J Clin Endocrinol Metab</addtitle><description>Context: The diagnosis of the polycystic ovary syndrome requires the exclusion of nonclassical congenital adrenal hyperplasia (NCAH).
Objective: Our objective was to evaluate the actual prevalences of 21-hydroxylase and 11β-hydroxylase deficiencies among women presenting with hyperandrogenic complaints.
Settings: This study was performed at an academic hospital.
Patients: A total of 270 consecutive unselected women presenting with hyperandrogenic symptoms were prospectively recruited.
Interventions: Basal and ACTH-stimulated 11-deoxycortisol and 17-hydroxyprogesterone concentrations were measured.
Main Outcome Measures: The prevalences of 21-hydroxylase and 11β-hydroxylase deficiencies were calculated, and the diagnostic performance of basal serum 17-hydroxyprogesterone levels for the screening of NCAH was evaluated by receiver operating characteristic curve analysis.
Results: Six of the 270 patients had 21-hydroxylase-deficient NCAH that was confirmed by CYP21 genotyping, whereas no patient was diagnosed with 11β-hydroxylase deficiency, for an overall NCAH prevalence of 2.2% (95% confidence limits 0.5–3.9%). According to receiver operating characteristic analysis, a single basal serum 17-hydroxyprogesterone determination has a 0.97 (95% confidence interval: 0.934–1.008) chance of detecting NCAH in hyperandrogenic women. In our experience, the most appropriate cutoff value for the detection of NCAH is a 17-hydroxyprogesterone above 1.7 ng/ml, showing a 100% sensitivity and a 88.6% specificity. Five of the six 21-hydroxylase-deficient NCAH patients carried a severe CYP21 allele requiring genetic counseling and highlighting the importance of excluding this disorder among hyperandrogenic patients.
Conclusions: The prevalence of NCAH among hyperandrogenic patients from Spain is 2.2%. Basal serum 17-hydroxyprogesterone measurements have an excellent diagnostic performance, yet the cutoff value should be established in each laboratory to avoid false-negative results.</description><subject>17-alpha-Hydroxyprogesterone - blood</subject><subject>Adolescent</subject><subject>Adrenal Hyperplasia, Congenital - blood</subject><subject>Adrenal Hyperplasia, Congenital - diagnosis</subject><subject>Adrenal Hyperplasia, Congenital - enzymology</subject><subject>Adrenal Hyperplasia, Congenital - epidemiology</subject><subject>Adrenals. Adrenal axis. Renin-angiotensin system (diseases)</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Cortodoxone - blood</subject><subject>Diagnosis, Differential</subject><subject>Endocrinopathies</subject><subject>Feeding. Feeding behavior</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Humans</subject><subject>Hyperandrogenism - blood</subject><subject>Hyperandrogenism - diagnosis</subject><subject>Hyperandrogenism - enzymology</subject><subject>Hyperandrogenism - epidemiology</subject><subject>Medical sciences</subject><subject>Non tumoral diseases. Target tissue resistance. Benign neoplasms</subject><subject>Polycystic Ovary Syndrome - blood</subject><subject>Polycystic Ovary Syndrome - diagnosis</subject><subject>Polycystic Ovary Syndrome - enzymology</subject><subject>Polycystic Ovary Syndrome - epidemiology</subject><subject>Prevalence</subject><subject>Prospective Studies</subject><subject>ROC Curve</subject><subject>Sensitivity and Specificity</subject><subject>Spain - epidemiology</subject><subject>Steroid 11-beta-Hydroxylase - metabolism</subject><subject>Steroid 21-Hydroxylase - metabolism</subject><subject>Vertebrates: anatomy and physiology, studies on body, several organs or systems</subject><subject>Vertebrates: endocrinology</subject><issn>0021-972X</issn><issn>1945-7197</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNptkU-P0zAQxSMEYrsLN84oFziRxf8SJ8eqAhZpBUgFwc1yncnWJbGD7WzVz8EX3gmp4IIle6yZn5-s97LsBSXXlFHy9mCuGSGyYKTkj7IVbURZSNrIx9mKEEaLRrIfF9lljAdCqBAlf5pd0JrgqsUq-73OvwQfRzDJ3kO-TVN7yn2Xpz3gAO51D87A3Pnknel1jNboPt94dwfOJryu2wAO681phDAiYXWuB5zn3_0AblaJ4JLFxtGm_cJp1wY_K5h8exrG5IeYYy_f2jsXn2VPOt1HeH6uV9m39---bm6K288fPm7Wt4URohJFq6Giomp3nEtGZEtFU4mOM-y0DWjNiGYCNGOCG9bsZMUFrzuGFkBb7rjkV9nrRXcM_tcEManBRgN9rx34KSpJWF3ShiL4ZgENWhUDdGoMdtDhpChRcwjqYNQcgppDQPzlWXfaDdD-g8-uI_DqDOiIbnZoh7HxL4dKNRF8FhILd_R9ghB_9tMRgtqD7tNezWKiknXxh8eDFLj5LM-XZ-Bab4J1MGIGUR38FDCp-P9fPwDmMbGy</recordid><startdate>200802</startdate><enddate>200802</enddate><creator>Escobar-Morreale, Héctor F.</creator><creator>Sanchón, Raul</creator><creator>San Millán, José L.</creator><general>Endocrine Society</general><general>Copyright by The Endocrine 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>7X8</scope></search><sort><creationdate>200802</creationdate><title>A Prospective Study of the Prevalence of Nonclassical Congenital Adrenal Hyperplasia among Women Presenting with Hyperandrogenic Symptoms and Signs</title><author>Escobar-Morreale, Héctor F. ; Sanchón, Raul ; San Millán, José L.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4464-dae6146db337207d14964f326dbd9eaa20a24ea2243c29b763438f2445ed5b373</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>17-alpha-Hydroxyprogesterone - blood</topic><topic>Adolescent</topic><topic>Adrenal Hyperplasia, Congenital - blood</topic><topic>Adrenal Hyperplasia, Congenital - diagnosis</topic><topic>Adrenal Hyperplasia, Congenital - enzymology</topic><topic>Adrenal Hyperplasia, Congenital - epidemiology</topic><topic>Adrenals. Adrenal axis. Renin-angiotensin system (diseases)</topic><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Cortodoxone - blood</topic><topic>Diagnosis, Differential</topic><topic>Endocrinopathies</topic><topic>Feeding. Feeding behavior</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Humans</topic><topic>Hyperandrogenism - blood</topic><topic>Hyperandrogenism - diagnosis</topic><topic>Hyperandrogenism - enzymology</topic><topic>Hyperandrogenism - epidemiology</topic><topic>Medical sciences</topic><topic>Non tumoral diseases. Target tissue resistance. Benign neoplasms</topic><topic>Polycystic Ovary Syndrome - blood</topic><topic>Polycystic Ovary Syndrome - diagnosis</topic><topic>Polycystic Ovary Syndrome - enzymology</topic><topic>Polycystic Ovary Syndrome - epidemiology</topic><topic>Prevalence</topic><topic>Prospective Studies</topic><topic>ROC Curve</topic><topic>Sensitivity and Specificity</topic><topic>Spain - epidemiology</topic><topic>Steroid 11-beta-Hydroxylase - metabolism</topic><topic>Steroid 21-Hydroxylase - metabolism</topic><topic>Vertebrates: anatomy and physiology, studies on body, several organs or systems</topic><topic>Vertebrates: endocrinology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Escobar-Morreale, Héctor F.</creatorcontrib><creatorcontrib>Sanchón, Raul</creatorcontrib><creatorcontrib>San Millán, José L.</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>MEDLINE - Academic</collection><jtitle>The journal of clinical endocrinology and metabolism</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Escobar-Morreale, Héctor F.</au><au>Sanchón, Raul</au><au>San Millán, José L.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A Prospective Study of the Prevalence of Nonclassical Congenital Adrenal Hyperplasia among Women Presenting with Hyperandrogenic Symptoms and Signs</atitle><jtitle>The journal of clinical endocrinology and metabolism</jtitle><addtitle>J Clin Endocrinol Metab</addtitle><date>2008-02</date><risdate>2008</risdate><volume>93</volume><issue>2</issue><spage>527</spage><epage>533</epage><pages>527-533</pages><issn>0021-972X</issn><eissn>1945-7197</eissn><coden>JCEMAZ</coden><abstract>Context: The diagnosis of the polycystic ovary syndrome requires the exclusion of nonclassical congenital adrenal hyperplasia (NCAH).
Objective: Our objective was to evaluate the actual prevalences of 21-hydroxylase and 11β-hydroxylase deficiencies among women presenting with hyperandrogenic complaints.
Settings: This study was performed at an academic hospital.
Patients: A total of 270 consecutive unselected women presenting with hyperandrogenic symptoms were prospectively recruited.
Interventions: Basal and ACTH-stimulated 11-deoxycortisol and 17-hydroxyprogesterone concentrations were measured.
Main Outcome Measures: The prevalences of 21-hydroxylase and 11β-hydroxylase deficiencies were calculated, and the diagnostic performance of basal serum 17-hydroxyprogesterone levels for the screening of NCAH was evaluated by receiver operating characteristic curve analysis.
Results: Six of the 270 patients had 21-hydroxylase-deficient NCAH that was confirmed by CYP21 genotyping, whereas no patient was diagnosed with 11β-hydroxylase deficiency, for an overall NCAH prevalence of 2.2% (95% confidence limits 0.5–3.9%). According to receiver operating characteristic analysis, a single basal serum 17-hydroxyprogesterone determination has a 0.97 (95% confidence interval: 0.934–1.008) chance of detecting NCAH in hyperandrogenic women. In our experience, the most appropriate cutoff value for the detection of NCAH is a 17-hydroxyprogesterone above 1.7 ng/ml, showing a 100% sensitivity and a 88.6% specificity. Five of the six 21-hydroxylase-deficient NCAH patients carried a severe CYP21 allele requiring genetic counseling and highlighting the importance of excluding this disorder among hyperandrogenic patients.
Conclusions: The prevalence of NCAH among hyperandrogenic patients from Spain is 2.2%. Basal serum 17-hydroxyprogesterone measurements have an excellent diagnostic performance, yet the cutoff value should be established in each laboratory to avoid false-negative results.</abstract><cop>Bethesda, MD</cop><pub>Endocrine Society</pub><pmid>18000084</pmid><doi>10.1210/jc.2007-2053</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| issn | 0021-972X 1945-7197 |
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| subjects | 17-alpha-Hydroxyprogesterone - blood Adolescent Adrenal Hyperplasia, Congenital - blood Adrenal Hyperplasia, Congenital - diagnosis Adrenal Hyperplasia, Congenital - enzymology Adrenal Hyperplasia, Congenital - epidemiology Adrenals. Adrenal axis. Renin-angiotensin system (diseases) Adult Biological and medical sciences Cortodoxone - blood Diagnosis, Differential Endocrinopathies Feeding. Feeding behavior Female Fundamental and applied biological sciences. Psychology Humans Hyperandrogenism - blood Hyperandrogenism - diagnosis Hyperandrogenism - enzymology Hyperandrogenism - epidemiology Medical sciences Non tumoral diseases. Target tissue resistance. Benign neoplasms Polycystic Ovary Syndrome - blood Polycystic Ovary Syndrome - diagnosis Polycystic Ovary Syndrome - enzymology Polycystic Ovary Syndrome - epidemiology Prevalence Prospective Studies ROC Curve Sensitivity and Specificity Spain - epidemiology Steroid 11-beta-Hydroxylase - metabolism Steroid 21-Hydroxylase - metabolism Vertebrates: anatomy and physiology, studies on body, several organs or systems Vertebrates: endocrinology |
| title | A Prospective Study of the Prevalence of Nonclassical Congenital Adrenal Hyperplasia among Women Presenting with Hyperandrogenic Symptoms and Signs |
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