A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty

Partial androgen insensitivity syndrome (PAIS) typically presents with micropenis, perineoscrotal hypospadias, and a bifid scrotum with descending or undescending testes and gynecomastia at puberty. It is an X-linked recessive disorder resulting from mutations in the androgen receptor (AR) gene. How...

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Detalles Bibliográficos
Autores principales: Koçyiğit, Cemil, Sarıtaş, Serdar, Çatlı, Gönül, Onay, Hüseyin, Dündar, Bumin Nuri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5096482/
https://www.ncbi.nlm.nih.gov/pubmed/27087292
http://dx.doi.org/10.4274/jcrpe.2637

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