Identification of heterozygote carriers of congenital adrenal hyperplasia by radioimmunoassay of serum 17-OH progesterone
The response to administered adrenocorticotropin (ACTH, Cortrosyn) of 26 heterozygotes (parents of children with adrenal 21-hydroxylase deficiency) and of 14 controls are compared. The mean plasma levels of 4-pregnene-3, 20-dione-17, 21-diol (17-OH progesterone) were significantly greater in the het...
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| Veröffentlicht in: | The Journal of pediatrics 1977-06, Vol.90 (6), p.930-933 |
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| container_end_page | 933 |
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| container_issue | 6 |
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| container_title | The Journal of pediatrics |
| container_volume | 90 |
| creator | Krensky, A.M. Bongiovanni, A.M. Marino, J. Parks, J. Tenore, A. |
| description | The response to administered adrenocorticotropin (ACTH, Cortrosyn) of 26 heterozygotes (parents of children with adrenal 21-hydroxylase deficiency) and of 14 controls are compared. The mean plasma levels of 4-pregnene-3, 20-dione-17, 21-diol (17-OH progesterone) were significantly greater in the heterozygotes 60 minutes (p |
| doi_str_mv | 10.1016/S0022-3476(77)80561-1 |
| format | Article |
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The mean plasma levels of 4-pregnene-3, 20-dione-17, 21-diol (17-OH progesterone) were significantly greater in the heterozygotes 60 minutes (p<0.02) and 90 minutes (p<0.05) after stimulation with Cortrosyn than in controls. There is, however, considerable overlap. The results would indicate a partial enzyme deficiency in the parents of diseased subjects. There was no significant difference in the response of plasma cortisol.</description><identifier>ISSN: 0022-3476</identifier><identifier>EISSN: 1097-6833</identifier><identifier>DOI: 10.1016/S0022-3476(77)80561-1</identifier><identifier>PMID: 859065</identifier><language>eng</language><publisher>United States: Mosby, Inc</publisher><subject>Adrenocortical Hyperfunction - blood ; Adrenocortical Hyperfunction - genetics ; Female ; Heterozygote ; Humans ; Hydrocortisone - blood ; Hydroxyprogesterones - blood ; Male ; Radioimmunoassay ; Steroid Hydroxylases - deficiency</subject><ispartof>The Journal of pediatrics, 1977-06, Vol.90 (6), p.930-933</ispartof><rights>1977 The C. V. 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The mean plasma levels of 4-pregnene-3, 20-dione-17, 21-diol (17-OH progesterone) were significantly greater in the heterozygotes 60 minutes (p<0.02) and 90 minutes (p<0.05) after stimulation with Cortrosyn than in controls. There is, however, considerable overlap. The results would indicate a partial enzyme deficiency in the parents of diseased subjects. There was no significant difference in the response of plasma cortisol.</description><subject>Adrenocortical Hyperfunction - blood</subject><subject>Adrenocortical Hyperfunction - genetics</subject><subject>Female</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Hydrocortisone - blood</subject><subject>Hydroxyprogesterones - blood</subject><subject>Male</subject><subject>Radioimmunoassay</subject><subject>Steroid Hydroxylases - deficiency</subject><issn>0022-3476</issn><issn>1097-6833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1977</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkMtu1TAQhi3E7bTwBiBlVcEiYMeJHa8QquhFqtQFsLbG9vjUKIkPdoIUnr5OT9VtV7P4b5qPkI-MfmGUia8_KW2amrdSfJLyc087wWr2guwYVbIWPecvye7J8pac5PyHUqpaSt-Q132nqOh2ZL12OM3BBwtziFMVfXWHM6b4f93HGSsLKQVMeRNsnPY4hRmGClzCqdy79YDpMEAOUJm1SuBCDOO4TBFyhnVLZUzLWDFZ315VhxT3mLf6Cd-RVx6GjO8f7yn5ffHj1_lVfXN7eX3-_aa2vFNzbZSw0PS-U0ZCB05ya7xgSjStdwYQJDW9L7-YrmVCetdI2TatUg6UNVzyU3J27C3jf5eyrseQLQ4DTBiXrHve95wqWozd0WhTzDmh14cURkirZlRvxPUDcb3h1FLqB-KaldyHx4HFjOieUkfERf52lLE8-a-w1NkGnCy6kNDO2sXwzMA92r-TQQ</recordid><startdate>197706</startdate><enddate>197706</enddate><creator>Krensky, A.M.</creator><creator>Bongiovanni, A.M.</creator><creator>Marino, J.</creator><creator>Parks, J.</creator><creator>Tenore, A.</creator><general>Mosby, Inc</general><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>197706</creationdate><title>Identification of heterozygote carriers of congenital adrenal hyperplasia by radioimmunoassay of serum 17-OH progesterone</title><author>Krensky, A.M. ; Bongiovanni, A.M. ; Marino, J. ; Parks, J. ; Tenore, A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c359t-b96ca28f59b7a5ad73cbf619624fdbaea70b8f065b54167fd27742499da9cb373</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1977</creationdate><topic>Adrenocortical Hyperfunction - blood</topic><topic>Adrenocortical Hyperfunction - genetics</topic><topic>Female</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Hydrocortisone - blood</topic><topic>Hydroxyprogesterones - blood</topic><topic>Male</topic><topic>Radioimmunoassay</topic><topic>Steroid Hydroxylases - deficiency</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Krensky, A.M.</creatorcontrib><creatorcontrib>Bongiovanni, A.M.</creatorcontrib><creatorcontrib>Marino, J.</creatorcontrib><creatorcontrib>Parks, J.</creatorcontrib><creatorcontrib>Tenore, A.</creatorcontrib><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 pediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Krensky, A.M.</au><au>Bongiovanni, A.M.</au><au>Marino, J.</au><au>Parks, J.</au><au>Tenore, A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Identification of heterozygote carriers of congenital adrenal hyperplasia by radioimmunoassay of serum 17-OH progesterone</atitle><jtitle>The Journal of pediatrics</jtitle><addtitle>J Pediatr</addtitle><date>1977-06</date><risdate>1977</risdate><volume>90</volume><issue>6</issue><spage>930</spage><epage>933</epage><pages>930-933</pages><issn>0022-3476</issn><eissn>1097-6833</eissn><abstract>The response to administered adrenocorticotropin (ACTH, Cortrosyn) of 26 heterozygotes (parents of children with adrenal 21-hydroxylase deficiency) and of 14 controls are compared. The mean plasma levels of 4-pregnene-3, 20-dione-17, 21-diol (17-OH progesterone) were significantly greater in the heterozygotes 60 minutes (p<0.02) and 90 minutes (p<0.05) after stimulation with Cortrosyn than in controls. There is, however, considerable overlap. The results would indicate a partial enzyme deficiency in the parents of diseased subjects. There was no significant difference in the response of plasma cortisol.</abstract><cop>United States</cop><pub>Mosby, Inc</pub><pmid>859065</pmid><doi>10.1016/S0022-3476(77)80561-1</doi><tpages>4</tpages></addata></record> |
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| ispartof | The Journal of pediatrics, 1977-06, Vol.90 (6), p.930-933 |
| issn | 0022-3476 1097-6833 |
| language | eng |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Adrenocortical Hyperfunction - blood Adrenocortical Hyperfunction - genetics Female Heterozygote Humans Hydrocortisone - blood Hydroxyprogesterones - blood Male Radioimmunoassay Steroid Hydroxylases - deficiency |
| title | Identification of heterozygote carriers of congenital adrenal hyperplasia by radioimmunoassay of serum 17-OH progesterone |
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