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A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene

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cris.virtual.author-orcid0000-0002-4568-5504
cris.virtualsource.author-orcid1ae210d6-d2a5-4fcd-a0fc-2af98300f182
cris.virtualsource.author-orcid8611ba69-ec42-4b84-beab-e8f2f63a3e45
datacite.rightsopen.access
dc.contributor.authorCamats Tarruella, Núria
dc.contributor.authorÜstyol, Ala
dc.contributor.authorAtabek, Mehmet Emre
dc.contributor.authorDick, Bernhard
dc.contributor.authorFlück Pandey, Christa Emma
dc.date.accessioned2024-10-24T16:55:13Z
dc.date.available2024-10-24T16:55:13Z
dc.date.issued2015-10
dc.description.abstractA novel homozygous long-range deletion of the CYP17A1 gene abolished protein expression and caused the severest form of 17-hydroxylase deficiency in one kindred of a Turkish family. The affected subjects presented with 46,XY sex reversal and 46,XX lack of pubertal development as well as severe hypertension.
dc.description.numberOfPages5
dc.description.sponsorshipDepartement Klinische Forschung, Forschungsgruppe Endokrinologie / Diabetologie / Metabolik (Pädiatrie)
dc.identifier.doi10.7892/boris.79277
dc.identifier.pmid26509008
dc.identifier.publisherDOI10.1002/ccr3.343
dc.identifier.urihttps://boris-portal.unibe.ch/handle/20.500.12422/140048
dc.language.isoen
dc.publisherWiley
dc.relation.ispartofClinical case reports
dc.relation.issn2050-0904
dc.relation.organizationDCD5A442C266E17DE0405C82790C4DE2
dc.relation.organizationDCD5A442BADAE17DE0405C82790C4DE2
dc.subject17α-hydroxylase/17
dc.subject20-lyase deficiency; hypertension; pubertal development; sexual development; steroidogenesis
dc.subject.ddc600 - Technology::610 - Medicine & health
dc.titleA novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene
dc.typearticle
dspace.entity.typePublication
dspace.file.typetext
oaire.citation.endPage797
oaire.citation.issue10
oaire.citation.startPage793
oaire.citation.volume3
oairecerif.author.affiliationDepartement Klinische Forschung, Forschungsgruppe Endokrinologie / Diabetologie / Metabolik (Pädiatrie)
oairecerif.author.affiliationDepartement Klinische Forschung, Forschungsgruppe Endokrinologie / Diabetologie / Metabolik (Pädiatrie)
oairecerif.author.affiliation2Universitätsklinik für Kinderheilkunde
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unibe.contributor.rolecreator
unibe.contributor.rolecreator
unibe.contributor.rolecreator
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unibe.description.ispublishedpub
unibe.eprints.legacyId79277
unibe.refereedtrue
unibe.subtype.articlejournal

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