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

Bibliographic Details
Main Author: Ivo, Catarina Rodrigues
Publication Date: 2022
Other Authors: Fitas, Ana Laura, Madureira, Inês, Diamantino, Catarina, Gomes, Susana, Gonçalves, João, Lopes, Lurdes
Format: Article
Language: eng
Source: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Download full: http://hdl.handle.net/10400.18/8493
Summary: Case Reports
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spelling Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentationCAH-X SyndromeCYP21A2Tenascin-XTNXATNXBGenética HumanaDoenças GenéticasCase ReportsObjectives: 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 managementDe GruyterRepositório Científico do Instituto Nacional de SaúdeIvo, Catarina RodriguesFitas, Ana LauraMadureira, InêsDiamantino, CatarinaGomes, SusanaGonçalves, JoãoLopes, Lurdes2023-02-02T11:18:35Z2022-10-202022-10-20T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/8493engJ Pediatr Endocrinol Metab. 2022 Oct 20;36(1):81-85. doi: 10.1515/jpem-2022-0396. Print 2023 Jan 270334-018X10.1515/jpem-2022-0396info:eu-repo/semantics/embargoedAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:42:36Zoai:repositorio.insa.pt:10400.18/8493Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:43:08.289077Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation
title Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation
spellingShingle Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation
Ivo, Catarina Rodrigues
CAH-X Syndrome
CYP21A2
Tenascin-X
TNXA
TNXB
Genética Humana
Doenças Genéticas
title_short Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation
title_full Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation
title_fullStr Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation
title_full_unstemmed Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation
title_sort Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation
author Ivo, Catarina Rodrigues
author_facet Ivo, Catarina Rodrigues
Fitas, Ana Laura
Madureira, Inês
Diamantino, Catarina
Gomes, Susana
Gonçalves, João
Lopes, Lurdes
author_role author
author2 Fitas, Ana Laura
Madureira, Inês
Diamantino, Catarina
Gomes, Susana
Gonçalves, João
Lopes, Lurdes
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Ivo, Catarina Rodrigues
Fitas, Ana Laura
Madureira, Inês
Diamantino, Catarina
Gomes, Susana
Gonçalves, João
Lopes, Lurdes
dc.subject.por.fl_str_mv CAH-X Syndrome
CYP21A2
Tenascin-X
TNXA
TNXB
Genética Humana
Doenças Genéticas
topic CAH-X Syndrome
CYP21A2
Tenascin-X
TNXA
TNXB
Genética Humana
Doenças Genéticas
description Case Reports
publishDate 2022
dc.date.none.fl_str_mv 2022-10-20
2022-10-20T00:00:00Z
2023-02-02T11:18:35Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.18/8493
url http://hdl.handle.net/10400.18/8493
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv J Pediatr Endocrinol Metab. 2022 Oct 20;36(1):81-85. doi: 10.1515/jpem-2022-0396. Print 2023 Jan 27
0334-018X
10.1515/jpem-2022-0396
dc.rights.driver.fl_str_mv info:eu-repo/semantics/embargoedAccess
eu_rights_str_mv embargoedAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv De Gruyter
publisher.none.fl_str_mv De Gruyter
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
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reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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