Androgen insensitivity syndrome: Clinical phenotype and molecular analysis in a single tertiary center cohort
- Touzon, María Sol
- Perez Garrido, Natalia Isabel
- Marino, Roxana Marcela
- Ramirez, Pablo
- Costanzo, Mariana
- Guercio, Gabriela Viviana
- Berensztein, Esperanza Beatriz
- Rivarola, Marco Aurelio
- Belgorosky, Alicia
DOIAbstract
Objective: The aim of this study was the molecular characterization of the AR gene as the cause of 46,XY disorder in our population. Methods: We studied 41, non related, 46,XY disorder of sexual differentiation index cases, having characteristics consistent with androgen insensivity syndrome (AIS). Genomic DNA was isolated from peripheral blood leukocytes of all patients and 25 family members from 17 non-related families. Results: The AR gene analysis revealed an abnormal sequence in 58.5% of the index patients. All of the complete AIS (CAIS) cases were genetically confirmed, while in the partial form (PAIS) a mutation in AR was detected in only 13 (43.3%). Molecular studies revealed other affected or carrier relatives in 87% of the index c...
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