A. Filiz KOÇ1, Yakup SARICA1, Cansun DEMİR2

1Çukurova Üniversitesi Tıp Fakültesi Nöroloji Anabilim Dalı, ADANA
2Çukurova Üniversitesi Tıp Fakültesi Kadın Doğum Anabilim Dalı, ADANA

Keywords: sensory-motor polyneuropathy, androgen insensitivity syndrome

Abstract

Scientific Background: Androgen insensitivity syndrome (AIS) is a clinical continuum of virilization disorders in XY males and a cause of male pseudohermaphroditism. Almost all of the cases with AIS is due to mutations in androgen receptor (AR) gene. Objective: Because androgen insensitivity syndrome (AIS) associated with sensory motor neuropaty has never been reported presentation of this case will be interesting to the reader.Material and Method: An 18 year-old girl with AIS with progressive motor and sensory polyneuropathy was reported The diagnosis was based on the karyogram and the clinical, histopatological and electrophysiological findings. Conclusion: To the best of our knowledge, this unusual finding has not been previously demonstrated This case with AIS and sensorymotor neuropathy is unique in the literature and it may be beyond the association occurred by chance.