Primary Amenorrhea in a Patient With 46, XY Disorder of Sex Development: A Case Report

Introduction: 46,XY gonadal dysgenesis is a rare entity within disorders of sexual development. This case is unique because it describes a patient who underwent irreversible sex assignment surgeries during childhood without histological confirmation, which contrasts with current recommendations. Its contribution to the literature lies in highlighting the diagnostic and psychosocial challenges of these conditions, even when molecular studies yield negative results. Case presentation: A 19-year-old woman, student, with a history of bilateral orchiectomy and penectomy at 2 years of age. She presented with primary amenorrhea and absence of secondary sexual characteristics. Physical examination revealed severe hypogonadism, hypergonadotropism, absence of uterus and adnexa, and a 17% reduction in bone mineral density. Karyotype confirmed 46,XY with a positive SRY gene, and a panel of 53 genes associated with disorders of sexual development was negative. Interventions and outcomes: Management included hormone replacement therapy with estradiol and medroxyprogesterone, calcium and vitamin D supplementation, and psychiatric treatment with escitalopram for depression and anxiety. As part of her gender affirmation process, she underwent breast implants with good postoperative evolution. She is currently under multidisciplinary follow-up with subjective improvement in mood and clinical stability. Conclusions: The main lessons from this case are the importance of avoiding early irreversible surgeries, recognizing the limitations of molecular studies, ensuring a comprehensive approach that includes psychosocial support, and guaranteeing the active participation of the patient in therapeutic decisions to optimize health and quality of life in 46,XY disorders of sexual development.