Identification of the Rare Ala871Glu Mutation in the Androgen Receptor Gene Leading to Complete Androgen Insensitivity Syndrome in an Adolescent Girl with Primary Amenorrhea

Complete Androgen Insensitivity Syndrome (CAIS) is a rare genetic condition by mutations in the androgen receptor (AR) gene resulting in target issue resistance to androgens and a female phenotype in genetically male individuals. A 16-year-old phenotypically female individual presented to our clinic...

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Detalles Bibliográficos
Autores principales: Kapama, Aikaterini, Papadimitriou, Dimitrios T., Mastorakos, George, Vlahos, Nikolaos F., Papagianni, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777019/
https://www.ncbi.nlm.nih.gov/pubmed/36553343
http://dx.doi.org/10.3390/children9121900

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777019/
https://www.ncbi.nlm.nih.gov/pubmed/36553343
http://dx.doi.org/10.3390/children9121900

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