AUTHOR=Konrade Ilze , Zavorikina Julija , Fridvalde Aija , Rots Dmitrijs , Kalere Ieva , Strumfa Ilze , Dambrova Maija , Gailite Linda 

TITLE=Novel Variant of the Androgen Receptor Gene in a Patient With Complete Androgen Insensitivity Syndrome and Polyorchidism

JOURNAL=Frontiers in Endocrinology

VOLUME=9

YEAR=2019

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2018.00795

DOI=10.3389/fendo.2018.00795

ISSN=1664-2392

ABSTRACT=<p><bold>Introduction:</bold> Complete androgen insensitivity (CAIS) in 65–95% cases is caused by pathogenic allelic variants (mutations) in the gene encoding androgen receptor (<italic>AR</italic> 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.</p><p><bold>Case presentation:</bold> A 48-year-old CAIS patient presented with polyorchidism (four testes) without gonadal malignancies. Genetic testing identified a novel allelic variant in the <italic>AR</italic> gene [c.2141T&gt;G (p.Phe805Cys)] causing the clinical symptoms.</p><p><bold>Conclusion:</bold> 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 <italic>AR</italic> gene.</p>