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ea0095p44 | Gonadal, DSD and Reproduction 1 | BSPED2023

Novel association of NUP107 variants in XY DSD

Edavana Shaju , Yadav Viba , Bajpai Anurag , Andrews Afia

XY disorders of sexual development (DSD) are rare causes of primary amenorrhea and are associated with significant diagnostic and therapeutic implications. We report a novel association of compound heterozygous missense NUP107 variants in a girl with hypergonadotropic hypogonadism and XY karyotype. This 17-year-old girl born of consanguineous marriage presented with absent breast development and primary amenorrhea. Her past medical history included the surgical removal of an a...