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

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 pubert...

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Опубликовано в: :Front Endocrinol (Lausanne)
Главные авторы: Konrade, Ilze, Zavorikina, Julija, Fridvalde, Aija, Rots, Dmitrijs, Kalere, Ieva, Strumfa, Ilze, Dambrova, Maija, Gailite, Linda
Формат: Artigo
Язык:Inglês
Опубликовано: Frontiers Media S.A. 2019
Предметы:
Endocrinology
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6345100/
https://ncbi.nlm.nih.gov/pubmed/30705665
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fendo.2018.00795
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