Role of Diagnostic Laparoscopy and Gonadal Biopsy in a Case of Gonadal Dysgenesis: A Rare Case Report

Background: Gonadal dysgenesis is associated with an absence of testicular differentiation in a phenotypic female with 46XY karyotype.Gonadal dysgenesis is most common cause of primary amenorrhea overall and second most common cause of primary amenorrhea in India.Case presentation: We report a case of 18-year-old female who came with complaints of primary amenorrhea.The patient was 152 cm tall weighing 41 kg [body mass index (BMI) = 17.7].External physical examination revealed well-developed breasts (Tanner stage IV), scanty pubic, and axillary hair.The vulva and perineum appeared normal and vagina measured 4 cm in length ending blindly.Ultrasonography (USG) on July 29, 2023 showed uterus, ET, right and left ovary not visualized.But January 13, 2024 USG showed hypoplastic uterus 56 × 16 × 9 mm with hypoplastic left ovary.Magnetic resonance imaging (MRI) pelvis showed severely hypoplastic tubular structure posterior to urinary bladder likely hypoplastic uterus.Karyotype showed 46, XY.Due to discrepancy in report, diagnostic laparoscopy, and gonadal biopsy was planned.Conclusion: Androgen insensitivity syndrome (AIS) is a rare cause of primary amenorrhea and poses a significant risk of gonadal malignancy in individuals with Y-chromosomal material.Diagnostic laparoscopy plays a crucial role in resolving imaging discrepancies and allows safe, minimally invasive gonadectomy.Early multidisciplinary management, timely gonad removal, and appropriate long-term hormonal and psychosocial support are essential for optimal outcomes.