hrp0097p2-315 | Late Breaking | ESPE2023

A case report of a novel mutation in AR gene in two sisters with 46-XY Karyotype

Rostami Parastoo , Mohsenipour Reihaneh

Introduction: Phenotype gender is the outcome of a long and coordinated set of fetal events that are controlled by genetic factors, hormonal factors and environmental factor. In the case of the 46XY fetus, SRY gene on chromosome Y determines the gender and cause bipotential gonad change to testes. And other factors such as sertolli cell by secreting anti-Mullerian hormone which leads to regression of the structures rooted in the paramesonephric ducts (tubes, w...