Novel variant of the androgen receptor gene in a patient with complete androgen insensitivity syndrome and polyorchidism

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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Article number795
JournalFrontiers in Endocrinology
Volume10
DOIs
Publication statusPublished - 2019

Keywords

  • Androgen receptor (AR) gene
  • Case
  • Complete androgen insensitive syndrome
  • Novel genetic variants
  • Polyorchidism
  • Supernumerary testis

Field of Science

  • 3.2 Clinical medicine
  • 3.1 Basic medicine

Publication Type

  • 1.1. Scientific article indexed in Web of Science and/or Scopus database

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