hrp0098p3-232 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

When phenotype and genotype do not match: Risks to be analyzed.

J. Chueca Maria , Porteros Silvia , Campos Maialen , Roncal Paula , Berrade Sara , Andrés Carlos , Sagaseta de Ilurdoz Maria , Molina Ada

Disorders of sexual development can be suspected from birth if there is genital ambiguity, but sometimes the diagnosis in girls is made at puberty due to lack of pubertal development or primary amenorrhea. Making the correct diagnosis has its relevance in sexual identity, in the initiation of the correct hormone replacement therapy and in its possible association with malignant gonadal tumors. We describe 2 cases with unusual presentation of girls with female phenotype and 46X...