Disorder of Sex Development in an Adolescent: Case of 46 XY Partial Gonadal Dysgenesis

Aim and background: Disorders of sex development (DSD) with a 46 XY karyotype represent a spectrum of conditions ranging from complete gonadal dysgenesis to partial forms with variable phenotypes, including ambiguous genitalia.Partial gonadal dysgenesis (PGD) is a rare condition that poses diagnostic and management challenges, particularly when first detected in adolescence.Early recognition is critical to prevent gonadal malignancy, optimize pubertal development, and provide appropriate psychosocial support.Case description: We report the case of a 16-year-old phenotypic female presenting with primary amenorrhea and absent secondary sexual characteristics.Clinical examination revealed ambiguous genitalia with clitoromegaly.Imaging demonstrated a rudimentary uterus and bilateral intra-abdominal gonads.Cytogenetic analysis confirmed a 46 XY karyotype.The patient underwent diagnostic laparoscopy with bilateral gonadectomy, which revealed dysgenetic intra-abdominal testes, followed by clitoroplasty for external genital correction.Histopathology confirmed PGD.Postoperatively, the patient recovered well and was counseled regarding long-term endocrine replacement therapy and psychological support.Conclusion: This case highlights the importance of a high index of suspicion for DSD in adolescents presenting with primary amenorrhea and genital ambiguity.Timely multidisciplinary evaluation and prophylactic gonadectomy are crucial to mitigate malignancy risk and optimize long-term reproductive, endocrine, and psychosocial outcomes.Clinical significance: Early diagnosis and individualized management of 46 XY PGD are essential to prevent gonadal tumor development, facilitate appropriate gender assignment, initiate timely hormone replacement therapy, and provide psychosocial counseling, thereby improving the overall quality of life for affected individuals.