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Updated: May 16, 2026

Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
Published on: September 4, 2011
Genetic Characterization and Multidisciplinary Management of Complete Androgen Insensitivity Syndrome: Unveiling a
Astorino Maria Francesca1, Scalise Serena2,3, Di Bella Chiara4
1University of Messina Department of Biomedical and Dental Sciences and Morpho-Functional Imaging Messina Italy.
Abstract:
A novel AR frameshift mutation (c.2023_2035del) was identified in a 17-year-old phenotypic female with Complete Androgen Insensitivity Syndrome (CAIS). This report emphasizes the necessity of molecular characterization and multidisciplinary management to address diagnosis, surgical timing, and psychological well-being in disorder of sex development (DSD) patients.
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