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Complete androgen insensitivity syndrome caused by the c.2678C>T mutation in the androgen receptor gene: A case report

BACKGROUND: Androgen insensitivity syndrome is an X-linked recessive genetic disease caused by mutations in the androgen receptor gene (AR). However, the underlying molecular mechanisms for the majority of AR variants remain unclear. In this study, we identified a point variant in three patients wit...

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Autores principales: Wang, Ka-Na, Chen, Qing-Qing, Zhu, Yi-Lin, Wang, Chun-Lin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8678886/
https://www.ncbi.nlm.nih.gov/pubmed/35047615
http://dx.doi.org/10.12998/wjcc.v9.i35.11036
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author Wang, Ka-Na
Chen, Qing-Qing
Zhu, Yi-Lin
Wang, Chun-Lin
author_facet Wang, Ka-Na
Chen, Qing-Qing
Zhu, Yi-Lin
Wang, Chun-Lin
author_sort Wang, Ka-Na
collection PubMed
description BACKGROUND: Androgen insensitivity syndrome is an X-linked recessive genetic disease caused by mutations in the androgen receptor gene (AR). However, the underlying molecular mechanisms for the majority of AR variants remain unclear. In this study, we identified a point variant in three patients with complete androgen insensitivity syndrome (CAIS), summarized the correlation analysis, and performed a literature review. CASE SUMMARY: The proband was raised as a girl. In infancy, she was first referred to hospital with a right inguinal hernia. Ultrasonography revealed the absence of a uterus and ovaries, and a testis-like structure located at the inguinal canal. Further diagnostic workup detected a 46, XY karyotype, and fluorescence in situ hybridization analysis showed the presence of the SRY gene. Histological analysis revealed the excised tissue to be testicular. Twelve years later, she was admitted to our hospital with a lack of breast development. Her pubic hair and breasts were Tanner stage I. She had normal female external genitalia. Blood hormone tests showed normal testosterone levels, low estradiol levels, and high gonadotropin levels. Her two siblings underwent similar examinations, and all three had a rare hemizygous missense mutation in AR: c.2678C>T. In vitro functional analyses revealed decreased nuclear translocation in AR-c.2678C>T mutation cells. CONCLUSION: This case of CAIS was caused by an AR variant (c.2678C>T). Functional studies showed impaired nuclear translocation ability of the mutant protein.
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spelling pubmed-86788862022-01-18 Complete androgen insensitivity syndrome caused by the c.2678C>T mutation in the androgen receptor gene: A case report Wang, Ka-Na Chen, Qing-Qing Zhu, Yi-Lin Wang, Chun-Lin World J Clin Cases Case Report BACKGROUND: Androgen insensitivity syndrome is an X-linked recessive genetic disease caused by mutations in the androgen receptor gene (AR). However, the underlying molecular mechanisms for the majority of AR variants remain unclear. In this study, we identified a point variant in three patients with complete androgen insensitivity syndrome (CAIS), summarized the correlation analysis, and performed a literature review. CASE SUMMARY: The proband was raised as a girl. In infancy, she was first referred to hospital with a right inguinal hernia. Ultrasonography revealed the absence of a uterus and ovaries, and a testis-like structure located at the inguinal canal. Further diagnostic workup detected a 46, XY karyotype, and fluorescence in situ hybridization analysis showed the presence of the SRY gene. Histological analysis revealed the excised tissue to be testicular. Twelve years later, she was admitted to our hospital with a lack of breast development. Her pubic hair and breasts were Tanner stage I. She had normal female external genitalia. Blood hormone tests showed normal testosterone levels, low estradiol levels, and high gonadotropin levels. Her two siblings underwent similar examinations, and all three had a rare hemizygous missense mutation in AR: c.2678C>T. In vitro functional analyses revealed decreased nuclear translocation in AR-c.2678C>T mutation cells. CONCLUSION: This case of CAIS was caused by an AR variant (c.2678C>T). Functional studies showed impaired nuclear translocation ability of the mutant protein. Baishideng Publishing Group Inc 2021-12-16 2021-12-16 /pmc/articles/PMC8678886/ /pubmed/35047615 http://dx.doi.org/10.12998/wjcc.v9.i35.11036 Text en ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved. https://creativecommons.org/licenses/by-nc/4.0/This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
spellingShingle Case Report
Wang, Ka-Na
Chen, Qing-Qing
Zhu, Yi-Lin
Wang, Chun-Lin
Complete androgen insensitivity syndrome caused by the c.2678C>T mutation in the androgen receptor gene: A case report
title Complete androgen insensitivity syndrome caused by the c.2678C>T mutation in the androgen receptor gene: A case report
title_full Complete androgen insensitivity syndrome caused by the c.2678C>T mutation in the androgen receptor gene: A case report
title_fullStr Complete androgen insensitivity syndrome caused by the c.2678C>T mutation in the androgen receptor gene: A case report
title_full_unstemmed Complete androgen insensitivity syndrome caused by the c.2678C>T mutation in the androgen receptor gene: A case report
title_short Complete androgen insensitivity syndrome caused by the c.2678C>T mutation in the androgen receptor gene: A case report
title_sort complete androgen insensitivity syndrome caused by the c.2678c>t mutation in the androgen receptor gene: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8678886/
https://www.ncbi.nlm.nih.gov/pubmed/35047615
http://dx.doi.org/10.12998/wjcc.v9.i35.11036
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