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ea0073aep616 | Reproductive and Developmental Endocrinology | ECE2021

Phenotypic expression of a defects in androgen synthesis of action

Safi Wajdi , Ben Rhouma Bochra , Abdelhedi Fatma , Kammoun Thouraya , Belghuith Neila , Rekik Nabila , Kammoun Hassen , Mnif Feki Mouna , Abid Mohamed

Sexual differentiation is a sequential process where several genes are involved, therefore a defect at any stage can lead to a divergence between genetic, gonadal and phenotypic sex. The objective of our work is to analyze the clinical and hormonal characteristics of 13 XY patients, explored between 1989 and 2007 and belonging to 10 different families. The average age of our patients was 18.9 years (2–33 years). The reason for consultation was sexual ambiguity in two case...