Ultrasound of retained gonads in children and young women with androgen insensitivity syndrome.

Introduction: Gonadal management in androgen insensitivity syndrome (AIS) patients has been controversial due to low risk of testicular cancer. Our study evaluated the role of ultrasound (US) in screening for malignancy in retained gonads in AIS patients.

Methods: This was a retrospective study (2001-2020) of gonadal US in patients with AIS. Demographics and clinical information were retrieved from the medical records. US studies were reviewed for nodule presence, size, echotexture, and change on follow-up studies. When available, pathology correlation was performed. Two-tailed t-test was used to compare age and development of nodules clinically or on US examination.

Results: 13 patients were included with a median age was 9.9 years (range 3.8-18.4 years). In 11 patients, gonads were in the inguinal canals on either initial or follow-up US. No nodules were palpable on physical examination, but nodules were detected in ten testicles by US in five of 13 patients (41.7%). Presence of nodules was significantly (p = 0.0038) associated with older age. The largest nodule size varied from 0.4 to 2.2 cm (average 0.9 ± 0.5 cm) and most (7/10, 70%) were hypoechoic. Finding testicular nodules on US led to change in management in three patients; bilateral gonadectomies, unilateral gonadectomy, and gonadal excisional biopsies (Figure). Pathology demonstrated Sertoli hamartoma in these patients, and in an additional two patients who underwent post-puberty gonadectomy. No malignancy was found in any specimen.

Discussion: Preservation of the gonads in children with AIS is associated with low risk for malignant transformation. The role of US surveillance of the gonads is unknown. In our series on 13 patients, most of the visualized 24 gonads (22/24, 91.7%) were localized in the groins in either the first or follow-up US studies. Nodules were detected in ten gonads in five of 13 patients (41.7%). Most of these gonads (8/10) had numerous nodules, most (7/10) were hypoechoic with average diameter of the largest nodule of 0.9 ± 0.5 cm. Pathology in 5 patients demonstrated Sertoli hamartomas in all of the gonads. No malignancy was found. In our series, gonadal nodules led to either gonadectomies or excisional biopsies in three patients. Our study has several limitations, related to the retrospective nature of the study and the small size of our series.

Conclusion: Multiple testicular nodules were commonly detected by US in AIS patients and were not associated with malignancy. Therefore, we are concerned that US screening can lead to unnecessary excisional biopsies and orchiectomies.