A Case of 11[beta]-Hydroxylase Deficiency Detected in a Newborn Screening Program by Second-Tier LC-MS/MS

A Case of 11[beta]-Hydroxylase Deficiency Detected in a Newborn Screening Program by Second-Tier LC-MS/MS

Background/Aim: 21-Hydroxylase deficiency congenital adrenal hyperplasia (CAH) is one of the target diseases in many newborn screening programs. 11β-Hydroxylase defiency is less frequent and does not cause salt-losing crisis. Thus, it is not a target disease for newborn screening. However, affected...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Hormone research in paediatrics 2008-04, Vol.69 (4), p.253
Hauptverfasser: Peter, M, Janzen, N, Sander, S, Korsch, E, Riepe, F G, Sander, J
Format: Artikel
Sprache:eng
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
container_end_page
container_issue 4
container_start_page 253
container_title Hormone research in paediatrics
container_volume 69
creator Peter, M
Janzen, N
Sander, S
Korsch, E
Riepe, F G
Sander, J
description Background/Aim: 21-Hydroxylase deficiency congenital adrenal hyperplasia (CAH) is one of the target diseases in many newborn screening programs. 11β-Hydroxylase defiency is less frequent and does not cause salt-losing crisis. Thus, it is not a target disease for newborn screening. However, affected newborns might show slightly elevated levels of 17-OH-progesterone (17-OHP) in the standard immunoassay screening test. The objective is to show that the diagnosis of 11β-hydroxylase deficiency can be done using a dried blood spot from newborn screening. Case Report: A male newborn was born at term. Blood sample for newborn screening was taken 36 h after birth. 17-OHP was slightly elevated using time-resolved fluorescence immunoassay (72.8 nmol/l; cut-off
doi_str_mv 10.1159/000113027
format Article
fullrecord <record><control><sourceid>proquest</sourceid><recordid>TN_cdi_proquest_journals_1069370542</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2770088321</sourcerecordid><originalsourceid>FETCH-proquest_journals_10693705423</originalsourceid><addsrcrecordid>eNqNis1qAjEURoNUUKqLvsGFrlNzJ3V-ljKtuFARxp2IZDJ3JGITm4zUeftOQVx39R2-cxh7QfGGOM0mQghEKaKkx4YYx5JHaRQ_PRjTARuHcOoyIdMkw2TIzAxyFQhcDYi7khq154u28u7Wnv_-D6qNNmR122FDuqEKjAUFa_opnbdQaE9kjT3CxrujV19QtlCQdrbiW0MeljlfFZNVMWL9Wp0Dje_7zF7nn9t8wS_efV8pNIeTu3rbqQOKOJOJmL5H8n_VL0b5SvI</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1069370542</pqid></control><display><type>article</type><title>A Case of 11[beta]-Hydroxylase Deficiency Detected in a Newborn Screening Program by Second-Tier LC-MS/MS</title><source>Karger Journals</source><creator>Peter, M ; Janzen, N ; Sander, S ; Korsch, E ; Riepe, F G ; Sander, J</creator><creatorcontrib>Peter, M ; Janzen, N ; Sander, S ; Korsch, E ; Riepe, F G ; Sander, J</creatorcontrib><description>Background/Aim: 21-Hydroxylase deficiency congenital adrenal hyperplasia (CAH) is one of the target diseases in many newborn screening programs. 11β-Hydroxylase defiency is less frequent and does not cause salt-losing crisis. Thus, it is not a target disease for newborn screening. However, affected newborns might show slightly elevated levels of 17-OH-progesterone (17-OHP) in the standard immunoassay screening test. The objective is to show that the diagnosis of 11β-hydroxylase deficiency can be done using a dried blood spot from newborn screening. Case Report: A male newborn was born at term. Blood sample for newborn screening was taken 36 h after birth. 17-OHP was slightly elevated using time-resolved fluorescence immunoassay (72.8 nmol/l; cut-off &lt;60 nmol/l). Results: We performed second-tier LC-MS/MS from the same blood sample and found elevated levels of 11-deoxycortisol and androstenedione and low cortisol. The family history was positive with an affected older sister born with ambiguous genitalia. Confirmation of diagnosis was done by hormonal analysis and molecular genetic testing of the CYP11B1 gene. A known CYP11B1 gene mutation W116C was identified in this family. Conclusions: The diagnosis of 11β-hydroxylase deficiency can be made by second-tier LC-MS/MS from dried blood spots. This method is very helpful in the work-up of elevated immunoassay 17-OHP. Copyright © 2007 S. Karger AG, Basel [PUBLICATION ABSTRACT]</description><identifier>ISSN: 1663-2818</identifier><identifier>EISSN: 1663-2826</identifier><identifier>DOI: 10.1159/000113027</identifier><language>eng</language><publisher>Basel: S. Karger AG</publisher><ispartof>Hormone research in paediatrics, 2008-04, Vol.69 (4), p.253</ispartof><rights>Copyright (c) 2008 S. Karger AG, Basel</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,777,781,27905,27906</link.rule.ids></links><search><creatorcontrib>Peter, M</creatorcontrib><creatorcontrib>Janzen, N</creatorcontrib><creatorcontrib>Sander, S</creatorcontrib><creatorcontrib>Korsch, E</creatorcontrib><creatorcontrib>Riepe, F G</creatorcontrib><creatorcontrib>Sander, J</creatorcontrib><title>A Case of 11[beta]-Hydroxylase Deficiency Detected in a Newborn Screening Program by Second-Tier LC-MS/MS</title><title>Hormone research in paediatrics</title><description>Background/Aim: 21-Hydroxylase deficiency congenital adrenal hyperplasia (CAH) is one of the target diseases in many newborn screening programs. 11β-Hydroxylase defiency is less frequent and does not cause salt-losing crisis. Thus, it is not a target disease for newborn screening. However, affected newborns might show slightly elevated levels of 17-OH-progesterone (17-OHP) in the standard immunoassay screening test. The objective is to show that the diagnosis of 11β-hydroxylase deficiency can be done using a dried blood spot from newborn screening. Case Report: A male newborn was born at term. Blood sample for newborn screening was taken 36 h after birth. 17-OHP was slightly elevated using time-resolved fluorescence immunoassay (72.8 nmol/l; cut-off &lt;60 nmol/l). Results: We performed second-tier LC-MS/MS from the same blood sample and found elevated levels of 11-deoxycortisol and androstenedione and low cortisol. The family history was positive with an affected older sister born with ambiguous genitalia. Confirmation of diagnosis was done by hormonal analysis and molecular genetic testing of the CYP11B1 gene. A known CYP11B1 gene mutation W116C was identified in this family. Conclusions: The diagnosis of 11β-hydroxylase deficiency can be made by second-tier LC-MS/MS from dried blood spots. This method is very helpful in the work-up of elevated immunoassay 17-OHP. Copyright © 2007 S. Karger AG, Basel [PUBLICATION ABSTRACT]</description><issn>1663-2818</issn><issn>1663-2826</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNqNis1qAjEURoNUUKqLvsGFrlNzJ3V-ljKtuFARxp2IZDJ3JGITm4zUeftOQVx39R2-cxh7QfGGOM0mQghEKaKkx4YYx5JHaRQ_PRjTARuHcOoyIdMkw2TIzAxyFQhcDYi7khq154u28u7Wnv_-D6qNNmR122FDuqEKjAUFa_opnbdQaE9kjT3CxrujV19QtlCQdrbiW0MeljlfFZNVMWL9Wp0Dje_7zF7nn9t8wS_efV8pNIeTu3rbqQOKOJOJmL5H8n_VL0b5SvI</recordid><startdate>20080401</startdate><enddate>20080401</enddate><creator>Peter, M</creator><creator>Janzen, N</creator><creator>Sander, S</creator><creator>Korsch, E</creator><creator>Riepe, F G</creator><creator>Sander, J</creator><general>S. Karger AG</general><scope>3V.</scope><scope>7RV</scope><scope>7U7</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>C1K</scope><scope>CCPQU</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9-</scope><scope>K9.</scope><scope>KB0</scope><scope>M0R</scope><scope>M0S</scope><scope>M1P</scope><scope>NAPCQ</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope></search><sort><creationdate>20080401</creationdate><title>A Case of 11[beta]-Hydroxylase Deficiency Detected in a Newborn Screening Program by Second-Tier LC-MS/MS</title><author>Peter, M ; Janzen, N ; Sander, S ; Korsch, E ; Riepe, F G ; Sander, J</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-proquest_journals_10693705423</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Peter, M</creatorcontrib><creatorcontrib>Janzen, N</creatorcontrib><creatorcontrib>Sander, S</creatorcontrib><creatorcontrib>Korsch, E</creatorcontrib><creatorcontrib>Riepe, F G</creatorcontrib><creatorcontrib>Sander, J</creatorcontrib><collection>ProQuest Central (Corporate)</collection><collection>Nursing &amp; Allied Health Database</collection><collection>Toxicology Abstracts</collection><collection>Health &amp; Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>Consumer Health Database (Alumni Edition)</collection><collection>ProQuest Health &amp; Medical Complete (Alumni)</collection><collection>Nursing &amp; Allied Health Database (Alumni Edition)</collection><collection>Consumer Health Database</collection><collection>Health &amp; Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Nursing &amp; Allied Health Premium</collection><collection>Biotechnology and BioEngineering Abstracts</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>Genetics Abstracts</collection><jtitle>Hormone research in paediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Peter, M</au><au>Janzen, N</au><au>Sander, S</au><au>Korsch, E</au><au>Riepe, F G</au><au>Sander, J</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A Case of 11[beta]-Hydroxylase Deficiency Detected in a Newborn Screening Program by Second-Tier LC-MS/MS</atitle><jtitle>Hormone research in paediatrics</jtitle><date>2008-04-01</date><risdate>2008</risdate><volume>69</volume><issue>4</issue><spage>253</spage><pages>253-</pages><issn>1663-2818</issn><eissn>1663-2826</eissn><abstract>Background/Aim: 21-Hydroxylase deficiency congenital adrenal hyperplasia (CAH) is one of the target diseases in many newborn screening programs. 11β-Hydroxylase defiency is less frequent and does not cause salt-losing crisis. Thus, it is not a target disease for newborn screening. However, affected newborns might show slightly elevated levels of 17-OH-progesterone (17-OHP) in the standard immunoassay screening test. The objective is to show that the diagnosis of 11β-hydroxylase deficiency can be done using a dried blood spot from newborn screening. Case Report: A male newborn was born at term. Blood sample for newborn screening was taken 36 h after birth. 17-OHP was slightly elevated using time-resolved fluorescence immunoassay (72.8 nmol/l; cut-off &lt;60 nmol/l). Results: We performed second-tier LC-MS/MS from the same blood sample and found elevated levels of 11-deoxycortisol and androstenedione and low cortisol. The family history was positive with an affected older sister born with ambiguous genitalia. Confirmation of diagnosis was done by hormonal analysis and molecular genetic testing of the CYP11B1 gene. A known CYP11B1 gene mutation W116C was identified in this family. Conclusions: The diagnosis of 11β-hydroxylase deficiency can be made by second-tier LC-MS/MS from dried blood spots. This method is very helpful in the work-up of elevated immunoassay 17-OHP. Copyright © 2007 S. Karger AG, Basel [PUBLICATION ABSTRACT]</abstract><cop>Basel</cop><pub>S. Karger AG</pub><doi>10.1159/000113027</doi></addata></record>
fulltext fulltext
identifier ISSN: 1663-2818
ispartof Hormone research in paediatrics, 2008-04, Vol.69 (4), p.253
issn 1663-2818
1663-2826
language eng
recordid cdi_proquest_journals_1069370542
source Karger Journals
title A Case of 11[beta]-Hydroxylase Deficiency Detected in a Newborn Screening Program by Second-Tier LC-MS/MS
url https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-18T04%3A13%3A30IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=A%20Case%20of%2011%5Bbeta%5D-Hydroxylase%20Deficiency%20Detected%20in%20a%20Newborn%20Screening%20Program%20by%20Second-Tier%20LC-MS/MS&rft.jtitle=Hormone%20research%20in%20paediatrics&rft.au=Peter,%20M&rft.date=2008-04-01&rft.volume=69&rft.issue=4&rft.spage=253&rft.pages=253-&rft.issn=1663-2818&rft.eissn=1663-2826&rft_id=info:doi/10.1159/000113027&rft_dat=%3Cproquest%3E2770088321%3C/proquest%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1069370542&rft_id=info:pmid/&rfr_iscdi=true