ea0095p126 | Gonadal, DSD and Reproduction 2 | BSPED2023
Balagamage Chamila
, Igbokwe Rebecca
, Robinson Hannah
, McCarthy Liam
, Chandran Harish
, Godber Caroline
, Mohamed Zainaba
, Idkowiak Jan
Introduction: FKBP prolyl isomerase 4, encoded by the gene FKBP4, is a member of the FK506-binding protein family and is presumed to be a regulator of the androgen receptor (AR) pathway. Mutations in FKBP4 have been proposed to cause Androgen Insensitivity Syndrome (AIS), with only one case reported in the literature so far.Aim: To report the clinical, biochemical and genetic findings in an infant with 46, XY DSD a homoz...