2. Surgical Treatment of a Rare Case of 46,XY Disorder of Sexual Development

Summary 46,XY partial gonadal dysgenesis (PGD) is a rare cause of disorder of sexual development (DSD) and characterized by a range of testicular dysgenesis, ambiguous genitalia, and absent/rudimentary Müllerian structures 1,2 .We present the surgical management of a 21-year-old patient with 46,XY PGD,who has predominantly female external genitalia with clitoral enlargement and complete vaginal agenesis. Our patient presented with primary amenorrhea and lack of breast development. Clitoral enlargement was present with a single urethral opening and absence of an external vaginal opening (Fig.1)Laboratory evaluation revealed low testosterone concentrations (0.3 ng/ml) with elevated FSH and LH leves.Total testosterone/dihydrotestosterone and androstenedione ratios were normal. While pelvic imaging showed no uterus and vagina, bilateral streak gonadal tissue were observed within the distal part of inguinal canals.The genetic evaluation showed a 46, XY karyotype with FISH analyses positive for the SRY gene.Detailed genetic analysis performed for a 46,XY DSD panel with targeted next generation sequencing (NGS) failed to reveal any identified mutation.Our patient was raised a female and expressed no gender identity confusion. Bilateral gonadectomy with open inguinal incisions, reduction clitoroplasy and McIndoe vaginoplasty were performed during the same session.The small dysgenetic gonads in the inguinal canals were determined preoperatively.Two full-thickness skin grafts were harvested from the bilateral inguinal incision. Reduction clitoroplasty was performed by reducing the corpus cavernosum while preserving the glans clitoris and neurovascular structures3.In the presence of a wide urethral opening without a vaginal introitus, creating the appropriate vaginal opening with a perineal approach was meticulously performed.The operation was completed by placing skin grafts into the created vaginal cavity.Pathological findings was significant for seminoma in the right testicle.A vaginal mold was left in place all day for the first 3 months and only at night for an additional 3 months. She was started on estrogen replacement for pubertal induction.Significant reduction in size of the glans and no vaginal stenosis were observed 3 months after the procedure (Fig.2). Intended Objectives 46,XY DSD patients, especially those with genital ambiguity, are complex cases in terms of both clinical and surgical management. 46,XY PGD should be considered as a rare cause in these cases where other possible causes have been excluded. Achieving a good cosmetic result without functional loss requires a well-planned and meticulous surgical intervention. Creating a neovaginal space requires great care, especially in cases where there is no vaginal introitus.