Original Article

Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort


  • Maria Sol Touzon
  • Natalia Perez Garrido
  • Roxana Marino
  • Pablo Ramirez
  • Mariana Costanzo
  • Gabriela Guercio
  • Esperanza Berensztein
  • Marco A. Rivarola
  • Alicia Belgorosky

Received Date: 24.07.2018 Accepted Date: 20.09.2018 J Clin Res Pediatr Endocrinol 0;0(0):0-0 [e-Pub] PMID: 30251955


The aim of this study was the molecular characterization of the AR gene as the cause of 46,XY DSD in our population.


We studied 41 non related 46,XY DSD index cases with characteristics consistent with AIS. Genomic DNA was isolated from peripheral blood leukocytes of all patients and 25 family members from 17 non-related families.


The AR gene analysis revealed an abnormal sequence in58.5% of total index patients. All of the CAIS cases were genetically confirmed, while in PAIS only in 13 (43.3%) patients a mutation in AR was detected. Molecular studies revealed other affected/carrier relatives in 87% of the index cases. The AR mutations were found spread along the whole coding sequence, with a higher prevalence in LBD. Nine (39%) out of 23 AR mutations were novel. In 17% of AR-mutated gene patients, somatic mosaicism was detected in DNA derived from blood leukocytes. In our cohort long-term follow up gender dysphoria raised as male or female was not found. Finally,in suspected PAIS, the identification of AR mutation was clearly less than in CAIS patients.


The improvement of the knowledge of the components of the AR complex and signaling network might contribute to the long term outcome and genetic counseling in AIS patients.

Keywords: 46,XYdisorders of sex development,androgen insensitivity syndrome,Androgen Receptor gene mutations,mosaicism,clinical phenotype