hrp0098p3-245 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

A rare case of Swyer syndrome from Kazakhstan: XY Complete Gonadal Dysgenesis in a young girl with primary amenorrhea

Bolatbek Kassiyet , Rakhimzhanova Marzhan , Abikenova Ayazhan

Introduction: Swyer syndrome is a rare disorder of sexual differentiation with a primary amenorrhea resulting from gonadal dysgenesis. It is characterized by the presence of normal female phenotype with 46 XY caryotype. Females with Swyer syndrome have female external genital organs, and streak gonads that should be removed due to their high malignization potential. Instead of gonads, girls with Swyer syndrome have “gonadal streaks”, in which the o...