Screening heterozygotes for 21-hydroxylase deficiency among hirsute women: lack of utility of the adrenocorticotropin hormone test
Heterozygosity for 21-hydroxylase deficiency (21-OHD) was investigated in 174 adult hirsute women by using the sum of the incremental responses of serum 17 α-hydroxyprogesterone (17 α-OHP) and progesterone (P) (Δ 17 α-OHP+P), 60 minutes after a 0.25mg intravenous (IV) bolus of synthetic adrenocortic...
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| Veröffentlicht in: | Fertility and sterility 1988-08, Vol.50 (2), p.228-232 |
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| creator | Dewailly, Didier Vantyghem, Marie-Christine Lemaire, Christine Dufosse, Françoise Racadot, André Fossati, Pierre |
| description | Heterozygosity for 21-hydroxylase deficiency (21-OHD) was investigated in 174 adult hirsute women by using the sum of the incremental responses of serum 17 α-hydroxyprogesterone (17 α-OHP) and progesterone (P) (Δ 17 α-OHP+P), 60 minutes after a 0.25mg intravenous (IV) bolus of synthetic adrenocorticotropic hormone (ACTH). The distribution of 17 α-OHP+P in hirsute women was bimodal, allowing two subgroups to be distinguished. In one subgroup including 137 patients, the mode was similar to controls and all values were lower than 3ng/ml. Thirty-seven (21%) patients constituted another subgroup with values higher than 3ng/ml and could a priori have been considered as heterozygotes for 21-OHD. However, human leukocyte antigen genotyping provided no conclusive evidence that this subgroup included exclusively heterozygotes for the 21-OHD. |
| doi_str_mv | 10.1016/S0015-0282(16)60064-X |
| format | Article |
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The distribution of 17 α-OHP+P in hirsute women was bimodal, allowing two subgroups to be distinguished. In one subgroup including 137 patients, the mode was similar to controls and all values were lower than 3ng/ml. Thirty-seven (21%) patients constituted another subgroup with values higher than 3ng/ml and could a priori have been considered as heterozygotes for 21-OHD. However, human leukocyte antigen genotyping provided no conclusive evidence that this subgroup included exclusively heterozygotes for the 21-OHD.</description><identifier>ISSN: 0015-0282</identifier><identifier>EISSN: 1556-5653</identifier><identifier>DOI: 10.1016/S0015-0282(16)60064-X</identifier><identifier>PMID: 2840308</identifier><identifier>CODEN: FESTAS</identifier><language>eng</language><publisher>New York, NY: Elsevier Inc</publisher><subject>17-alpha-Hydroxyprogesterone ; Adolescent ; Adrenal Hyperplasia, Congenital ; Adrenals. Adrenal axis. Renin-angiotensin system (diseases) ; Adrenocorticotropic Hormone ; Adult ; Androstenedione - blood ; Biological and medical sciences ; Dehydroepiandrosterone - blood ; Endocrinopathies ; Female ; Genetic Carrier Screening ; Hirsutism - blood ; Hirsutism - enzymology ; Hirsutism - genetics ; HLA Antigens - genetics ; Humans ; Hydroxyprogesterones - blood ; Medical sciences ; Middle Aged ; Non tumoral diseases. Target tissue resistance. Benign neoplasms ; Progesterone - blood ; Steroid 21-Hydroxylase - genetics ; Steroid Hydroxylases - deficiency ; Testosterone - blood</subject><ispartof>Fertility and sterility, 1988-08, Vol.50 (2), p.228-232</ispartof><rights>1988 American Society for Reproductive Medicine</rights><rights>1990 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c389t-954b56c7e9c42612ae8d5692f093b69876028218de8d776009907fd5ba21f5983</citedby><cites>FETCH-LOGICAL-c389t-954b56c7e9c42612ae8d5692f093b69876028218de8d776009907fd5ba21f5983</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/S0015-0282(16)60064-X$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,777,781,3537,27905,27906,45976</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=6599806$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/2840308$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Dewailly, Didier</creatorcontrib><creatorcontrib>Vantyghem, Marie-Christine</creatorcontrib><creatorcontrib>Lemaire, Christine</creatorcontrib><creatorcontrib>Dufosse, Françoise</creatorcontrib><creatorcontrib>Racadot, André</creatorcontrib><creatorcontrib>Fossati, Pierre</creatorcontrib><title>Screening heterozygotes for 21-hydroxylase deficiency among hirsute women: lack of utility of the adrenocorticotropin hormone test</title><title>Fertility and sterility</title><addtitle>Fertil Steril</addtitle><description>Heterozygosity for 21-hydroxylase deficiency (21-OHD) was investigated in 174 adult hirsute women by using the sum of the incremental responses of serum 17 α-hydroxyprogesterone (17 α-OHP) and progesterone (P) (Δ 17 α-OHP+P), 60 minutes after a 0.25mg intravenous (IV) bolus of synthetic adrenocorticotropic hormone (ACTH). The distribution of 17 α-OHP+P in hirsute women was bimodal, allowing two subgroups to be distinguished. In one subgroup including 137 patients, the mode was similar to controls and all values were lower than 3ng/ml. Thirty-seven (21%) patients constituted another subgroup with values higher than 3ng/ml and could a priori have been considered as heterozygotes for 21-OHD. However, human leukocyte antigen genotyping provided no conclusive evidence that this subgroup included exclusively heterozygotes for the 21-OHD.</description><subject>17-alpha-Hydroxyprogesterone</subject><subject>Adolescent</subject><subject>Adrenal Hyperplasia, Congenital</subject><subject>Adrenals. Adrenal axis. Renin-angiotensin system (diseases)</subject><subject>Adrenocorticotropic Hormone</subject><subject>Adult</subject><subject>Androstenedione - blood</subject><subject>Biological and medical sciences</subject><subject>Dehydroepiandrosterone - blood</subject><subject>Endocrinopathies</subject><subject>Female</subject><subject>Genetic Carrier Screening</subject><subject>Hirsutism - blood</subject><subject>Hirsutism - enzymology</subject><subject>Hirsutism - genetics</subject><subject>HLA Antigens - genetics</subject><subject>Humans</subject><subject>Hydroxyprogesterones - blood</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Non tumoral diseases. Target tissue resistance. Benign neoplasms</subject><subject>Progesterone - blood</subject><subject>Steroid 21-Hydroxylase - genetics</subject><subject>Steroid Hydroxylases - deficiency</subject><subject>Testosterone - blood</subject><issn>0015-0282</issn><issn>1556-5653</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1988</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkE-PFCEQxYnRrLOrH2ETDsa4h1agBxq8GLPxX7KJh9Vkb4SBYgftbkag1fboJ5eemczVE1TV79WDh9AlJS8poeLVLSGUN4RJ9oKKK0GIWDd3D9CKci4aLnj7EK1OyGN0nvM3UiHasTN0xuSatESu0N9bmwDGMN7jLRRI8c98Hwtk7GPCjDbb2aX4e-5NBuzABxtgtDM2Q1wUIeWpAP4VBxhf497Y7zh6PJXQhzIv17IFbFyCMdqYSrCxpLgLI97GVDcArk7lCXrkTZ_h6fG8QF_fv_ty_bG5-fzh0_Xbm8a2UpVG8fWGC9uBsmsmKDMgHReKeaLajVCyE8tHqXS139WCKEU67_jGMOq5ku0Fen7Yu0vxx1SN9RCyhb43I8Qp6062LW25qiA_gDbFnBN4vUthMGnWlOgle73PXi9-ulb77PVd1V0eDabNAO6kOoZd58-Oc5Ot6X0yow35hAmulCSiYm8OGNQwfgZIOu9TBxcS2KJdDP95yD-igqJm</recordid><startdate>19880801</startdate><enddate>19880801</enddate><creator>Dewailly, Didier</creator><creator>Vantyghem, Marie-Christine</creator><creator>Lemaire, Christine</creator><creator>Dufosse, Françoise</creator><creator>Racadot, André</creator><creator>Fossati, Pierre</creator><general>Elsevier Inc</general><general>Elsevier Science</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>19880801</creationdate><title>Screening heterozygotes for 21-hydroxylase deficiency among hirsute women: lack of utility of the adrenocorticotropin hormone test</title><author>Dewailly, Didier ; Vantyghem, Marie-Christine ; Lemaire, Christine ; Dufosse, Françoise ; Racadot, André ; Fossati, Pierre</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c389t-954b56c7e9c42612ae8d5692f093b69876028218de8d776009907fd5ba21f5983</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1988</creationdate><topic>17-alpha-Hydroxyprogesterone</topic><topic>Adolescent</topic><topic>Adrenal Hyperplasia, Congenital</topic><topic>Adrenals. Adrenal axis. Renin-angiotensin system (diseases)</topic><topic>Adrenocorticotropic Hormone</topic><topic>Adult</topic><topic>Androstenedione - blood</topic><topic>Biological and medical sciences</topic><topic>Dehydroepiandrosterone - blood</topic><topic>Endocrinopathies</topic><topic>Female</topic><topic>Genetic Carrier Screening</topic><topic>Hirsutism - blood</topic><topic>Hirsutism - enzymology</topic><topic>Hirsutism - genetics</topic><topic>HLA Antigens - genetics</topic><topic>Humans</topic><topic>Hydroxyprogesterones - blood</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Non tumoral diseases. Target tissue resistance. Benign neoplasms</topic><topic>Progesterone - blood</topic><topic>Steroid 21-Hydroxylase - genetics</topic><topic>Steroid Hydroxylases - deficiency</topic><topic>Testosterone - blood</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Dewailly, Didier</creatorcontrib><creatorcontrib>Vantyghem, Marie-Christine</creatorcontrib><creatorcontrib>Lemaire, Christine</creatorcontrib><creatorcontrib>Dufosse, Françoise</creatorcontrib><creatorcontrib>Racadot, André</creatorcontrib><creatorcontrib>Fossati, Pierre</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>Fertility and sterility</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Dewailly, Didier</au><au>Vantyghem, Marie-Christine</au><au>Lemaire, Christine</au><au>Dufosse, Françoise</au><au>Racadot, André</au><au>Fossati, Pierre</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Screening heterozygotes for 21-hydroxylase deficiency among hirsute women: lack of utility of the adrenocorticotropin hormone test</atitle><jtitle>Fertility and sterility</jtitle><addtitle>Fertil Steril</addtitle><date>1988-08-01</date><risdate>1988</risdate><volume>50</volume><issue>2</issue><spage>228</spage><epage>232</epage><pages>228-232</pages><issn>0015-0282</issn><eissn>1556-5653</eissn><coden>FESTAS</coden><abstract>Heterozygosity for 21-hydroxylase deficiency (21-OHD) was investigated in 174 adult hirsute women by using the sum of the incremental responses of serum 17 α-hydroxyprogesterone (17 α-OHP) and progesterone (P) (Δ 17 α-OHP+P), 60 minutes after a 0.25mg intravenous (IV) bolus of synthetic adrenocorticotropic hormone (ACTH). The distribution of 17 α-OHP+P in hirsute women was bimodal, allowing two subgroups to be distinguished. In one subgroup including 137 patients, the mode was similar to controls and all values were lower than 3ng/ml. Thirty-seven (21%) patients constituted another subgroup with values higher than 3ng/ml and could a priori have been considered as heterozygotes for 21-OHD. However, human leukocyte antigen genotyping provided no conclusive evidence that this subgroup included exclusively heterozygotes for the 21-OHD.</abstract><cop>New York, NY</cop><pub>Elsevier Inc</pub><pmid>2840308</pmid><doi>10.1016/S0015-0282(16)60064-X</doi><tpages>5</tpages></addata></record> |
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| ispartof | Fertility and sterility, 1988-08, Vol.50 (2), p.228-232 |
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| source | MEDLINE; Elsevier ScienceDirect Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection |
| subjects | 17-alpha-Hydroxyprogesterone Adolescent Adrenal Hyperplasia, Congenital Adrenals. Adrenal axis. Renin-angiotensin system (diseases) Adrenocorticotropic Hormone Adult Androstenedione - blood Biological and medical sciences Dehydroepiandrosterone - blood Endocrinopathies Female Genetic Carrier Screening Hirsutism - blood Hirsutism - enzymology Hirsutism - genetics HLA Antigens - genetics Humans Hydroxyprogesterones - blood Medical sciences Middle Aged Non tumoral diseases. Target tissue resistance. Benign neoplasms Progesterone - blood Steroid 21-Hydroxylase - genetics Steroid Hydroxylases - deficiency Testosterone - blood |
| title | Screening heterozygotes for 21-hydroxylase deficiency among hirsute women: lack of utility of the adrenocorticotropin hormone test |
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