Complete 46, XY Gonadal Dysgenesis (Swyer Syndrome) in an Adolescent with Primary Amenorrhea

Abstract

Background Swyer syndrome (46,XY pure gonadal dysgenesis) is a rare disorder of sex development, that presents with delayed puberty and primary amenorrhea in phenotypic females. It is characterized by a 46,XY karyotype and streak gonads due to the absence of functional gonadal tissue. Case Presentation We report a case of a 15 years old phenotypic female, born to consanguineous parents, who presented with primary amenorrhea, tall stature, and absent secondary sexual characteristics. Laboratory evaluation revealed hypergonadotropic hypogonadism, and imaging showed a small uterus with streak gonads. Karyotyping confirmed a 46,XY chromosomal constitution. Management and Outcome: The patient underwent prophylactic laparoscopic gonadectomy to prevent malignancy and was successfully started on hormone replacement therapy to induce puberty. Conclusion: This case highlights the importance of early diagnosis and multidisciplinary management to ensure optimal outcomes. Bangladesh Journal of Medical Science Vol. 25 No. 04 October’26 Page: 1358-1360