hrp0084p3-799 | DSD | ESPE2015
Kocyigit Cemil
, Catli Gonul
, Saritas Serdar
, Onay Huseyin
, Dundar Bumin Nuri
Background: Partial androgen insensitivity syndrome (PAIS) typically presents with micropenis, penoscrotal hypospadias, bifid scrotum with descending or undescending testes and gynecomastia. It is x-linked recessive disease resulting from mutations in androgen receptor (AR) gene.Objective and hypothesis: To present clinical characteristics of a novel mutation in the AR gene in an adolescent boy with PAIS who presented with gynecomastia ...