Please use this identifier to cite or link to this item:
10.3389/fendo.2018.00795
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DC Field | Value | Language |
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dc.contributor.author | Konrade, Ilze | - |
dc.contributor.author | Zavorikina, Julija | - |
dc.contributor.author | Fridvalde, Aija | - |
dc.contributor.author | Rots, Dmitrijs | - |
dc.contributor.author | Kalere, Ieva | - |
dc.contributor.author | Strumfa, Ilze | - |
dc.contributor.author | Dambrova, Maija | - |
dc.contributor.author | Gailite, Linda | - |
dc.date.accessioned | 2021-04-09T12:25:01Z | - |
dc.date.available | 2021-04-09T12:25:01Z | - |
dc.date.issued | 2019 | - |
dc.identifier.citation | Konrade , I , Zavorikina , J , Fridvalde , A , Rots , D , Kalere , I , Strumfa , I , Dambrova , M & Gailite , L 2019 , ' Novel variant of the androgen receptor gene in a patient with complete androgen insensitivity syndrome and polyorchidism ' , Frontiers in Endocrinology , vol. 10 , 795 . https://doi.org/10.3389/fendo.2018.00795 | - |
dc.identifier.issn | 1664-2392 | - |
dc.identifier.uri | https://dspace.rsu.lv/jspui/handle/123456789/3725 | - |
dc.description | Publisher Copyright: © 2007 - 2019 Frontiers Media S.A. All Rights Reserved. | - |
dc.description.abstract | Introduction: Complete androgen insensitivity (CAIS) in 65–95% cases is caused by pathogenic allelic variants (mutations) in the gene encoding androgen receptor (AR gene) and is characterized by female phenotype development with a male karyotype (46, XY). Patients are usually diagnosed during puberty and undergo gonadectomy due to increased testicular germ cell tumor risk. Only a few outcomes have been reported in older individuals with postponed gonadectomy. Case presentation: A 48-year-old CAIS patient presented with polyorchidism (four testes) without gonadal malignancies. Genetic testing identified a novel allelic variant in the AR gene [c.2141T>G (p.Phe805Cys)] causing the clinical symptoms. Conclusion: We have described a unique patient with CAIS and polyorchidism without malignancies in her late 40's bearing a novel likely pathogenic variant in the AR gene. | en |
dc.format.extent | 1849701 | - |
dc.language.iso | eng | - |
dc.relation.ispartof | Frontiers in Endocrinology | - |
dc.rights | info:eu-repo/semantics/openAccess | - |
dc.subject | Androgen receptor (AR) gene | - |
dc.subject | Case | - |
dc.subject | Complete androgen insensitive syndrome | - |
dc.subject | Novel genetic variants | - |
dc.subject | Polyorchidism | - |
dc.subject | Supernumerary testis | - |
dc.subject | 3.2 Clinical medicine | - |
dc.subject | 3.1 Basic medicine | - |
dc.subject | 1.1. Scientific article indexed in Web of Science and/or Scopus database | - |
dc.subject | Endocrinology, Diabetes and Metabolism | - |
dc.subject | SDG 3 - Good Health and Well-being | - |
dc.title | Novel variant of the androgen receptor gene in a patient with complete androgen insensitivity syndrome and polyorchidism | en |
dc.type | /dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article | - |
dc.identifier.doi | 10.3389/fendo.2018.00795 | - |
dc.contributor.institution | Department of Internal Diseases | - |
dc.contributor.institution | Scientific Laboratory of Molecular Genetics | - |
dc.contributor.institution | Faculty of Pharmacy | - |
dc.contributor.institution | Department of Pathology | - |
dc.contributor.institution | Department of Human Physiology and Biochemistry | - |
dc.identifier.url | http://www.scopus.com/inward/record.url?scp=85064219397&partnerID=8YFLogxK | - |
dc.description.status | Peer reviewed | - |
Appears in Collections: | Research outputs from Pure / Zinātniskās darbības rezultāti no ZDIS Pure |
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