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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Bibliografiske detaljer

Principais autores:	Aikaterini Kapama, Dimitrios T. Papadimitriou, George Mastorakos, Nikolaos F. Vlahos, Maria Papagianni
Format:	Artigo
Sprog:	Inglês
Udgivet:	MDPI AG 2022-12-01
Serier:	Children
Fag:	complete androgen insensitivity syndrome androgen receptor mutation hormone replacement therapy CAIS PAIS
Online adgang:	https://www.mdpi.com/2227-9067/9/12/1900
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