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Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation

2022-10-20Journal article Restricted access
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dc.contributor.authorIvo, Catarina Rodrigues
dc.contributor.authorFitas, Ana Laura
dc.contributor.authorMadureira, Inês
dc.contributor.authorDiamantino, Catarina
dc.contributor.authorGomes, Susana
dc.contributor.authorGonçalves, João
dc.contributor.authorLopes, Lurdes
dc.date.accessioned2023-02-02T11:18:35Z
dc.date.available2023-02-02T11:18:35Z
dc.date.issued2022-10-20
dc.descriptionCase Reportspt_PT
dc.description.abstractObjectives: Congenital Adrenal Hyperplasia (CAH) is a group of genetic diseases characterized by impaired cortisol biosynthesis. 95% of CAH cases result from muta tion in the CYP21A2 gene encoding 21-hydroxilase. TNX-B gene partially overlaps CYP21A2 and encodes a matrix protein called Tenascin-X (TNX). Complete tenascin defi ciency causes Enlers-Danlos syndrome (EDS). A mono allelic variant called CAH-X CH-1 was recently described, resulting from a CYP21A2 complete deletion that extends into the TNXB. This haploinsufficiency of TNX may be associated with a mild hypermobility form of EDS, as well as other connective tissue comorbidities such as hernia, cardiac defects and chronic arthralgia. Case presentation: We report four patients heterozygous for a CAH-X CH-1 allele that do not present clinical mani festations of the EDS. Conclusions: All CAH patients, carriers of these TNXA/ TNXB chimeras, should be evaluated for clinical manifes tations related to connective tissue hypermobility, cardiac abnormalities and other EDS features, allowing for better clinical surveillance managementpt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationJ Pediatr Endocrinol Metab. 2022 Oct 20;36(1):81-85. doi: 10.1515/jpem-2022-0396. Print 2023 Jan 27pt_PT
dc.identifier.doi10.1515/jpem-2022-0396pt_PT
dc.identifier.issn0334-018X
dc.identifier.urihttp://hdl.handle.net/10400.18/8493
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherDe Gruyterpt_PT
dc.relation.publisherversionhttps://www.degruyter.com/document/doi/10.1515/jpem-2022-0396/htmlpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectCAH-X Syndromept_PT
dc.subjectCYP21A2pt_PT
dc.subjectTenascin-Xpt_PT
dc.subjectTNXApt_PT
dc.subjectTNXBpt_PT
dc.subjectGenética Humanapt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleCongenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentationpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage85pt_PT
oaire.citation.issue1pt_PT
oaire.citation.startPage81pt_PT
oaire.citation.titleJournal of Pediatric Endocrinology and Metabolismpt_PT
oaire.citation.volume36pt_PT
person.familyNameGonçalves
person.givenNameJoão
person.identifier.ciencia-id5710-1FAE-5FAB
person.identifier.orcid0000-0001-9359-8774
person.identifier.ridL-2265-2014
person.identifier.scopus-author-id55934387500
rcaap.embargofctAcesso de acordo com política editorial da revista.pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication6bbd19e6-ea9c-4502-b972-ec6997e9c481
relation.isAuthorOfPublication.latestForDiscovery6bbd19e6-ea9c-4502-b972-ec6997e9c481

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