Please use this identifier to cite or link to this item:
10.3389/fendo.2018.00795
Title: | Novel variant of the androgen receptor gene in a patient with complete androgen insensitivity syndrome and polyorchidism |
Authors: | Konrade, Ilze Zavorikina, Julija Fridvalde, Aija Rots, Dmitrijs Kalere, Ieva Strumfa, Ilze Dambrova, Maija Gailite, Linda Department of Internal Diseases Scientific Laboratory of Molecular Genetics Faculty of Pharmacy Department of Pathology Department of Human Physiology and Biochemistry |
Keywords: | Androgen receptor (AR) gene;Case;Complete androgen insensitive syndrome;Novel genetic variants;Polyorchidism;Supernumerary testis;3.2 Clinical medicine;3.1 Basic medicine;1.1. Scientific article indexed in Web of Science and/or Scopus database;Endocrinology, Diabetes and Metabolism;SDG 3 - Good Health and Well-being |
Issue Date: | 2019 |
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 |
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. |
Description: | Publisher Copyright: © 2007 - 2019 Frontiers Media S.A. All Rights Reserved. |
DOI: | 10.3389/fendo.2018.00795 |
ISSN: | 1664-2392 |
Appears in Collections: | Research outputs from Pure / Zinātniskās darbības rezultāti no ZDIS Pure |
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