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The FKBP4 gene, encoding a regulator of the androgen receptor signaling pathway, is a novel candidate gene for androgen insensitivity syndrome

Ilaslan, Erkut ; Markosyan, Renata ; Sproll, Patrick ; Stevenson, Brian J. ; Sajek, Malgorzata ; Sajek, Marcin P. ; Hayrapetyan, Hasmik ; Sarkisian, Tamara ; Livshits, Ludmila ; Nef, Serge ; Jaruzelska, Jadwiga ; Kusz-Zamelczyk, Kamila

In: International Journal of Molecular Sciences, 2020, vol. 21, no. 21, p. 8403

Androgen insensitivity syndrome (AIS), manifesting incomplete virilization in 46,XY individuals, is caused mostly by androgen receptor (AR) gene mutations. Therefore, a search for AR mutations is a routine approach in AIS diagnosis. However, some AIS patients lack AR mutations, which complicates the diagnosis. Here, we describe a patient suffering from partial androgen insensitivity syndrome...