Article
Complete Androgen Insensitivity Syndrome: From the Relevance of an Accurate Genetic Diagnosis to the Challenge of Clinical Management. A Case Report.
Medicina (Kaunas, Lithuania) - 21 Oct 2021
Barbagallo Federica, Cannarella Rossella, Bertelli Matteo, Crafa Andrea, La Vignera Sandro, Condorelli Rosita A, Calogero Aldo E
Abstract excerpt
Introduction: Androgen insensitivity syndrome (AIS), an X-linked recessive disorder of sex development (DSD), is caused by variants of the androgen receptor (AR) gene, mapping in the long arm of the X chromosome, which cause a complete loss of function of the receptor. Case presentation: We report a patient diagnosed with complete AIS (CAIS) at birth due to swelling in the bilateral inguinal region....
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