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

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

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). Gen...

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Bibliographic Details
Main Authors: Maria Sol Touzon, Natalia Perez Garrido, Roxana Marino, Pablo Ramirez, Mariana Costanzo, Gabriela Guercio, Esperanza Berensztein, Marco A. Rivarola, Alicia Belgorosky
Format: Article
Language:English
Published: Galenos Yayincilik 2019-03-01
Series:JCRPE
Subjects:
46
XY disorders of sex development
androgen insensitivity syndrome
androgen receptor gene mutations
mosaicism
clinical phenotype
Online Access: http://www.jcrpe.org/archives/archive-detail/article-preview/androgen-nsensitivity-syndrome-clinical-phenotype-/19687

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http://www.jcrpe.org/archives/archive-detail/article-preview/androgen-nsensitivity-syndrome-clinical-phenotype-/19687

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