Nationwide Children's Hospital, Division of Urology, THRIVE Program, Columbus, OH, USA.
Nationwide Children's Hospital, Pediatric and Adolescent Gynecology, THRIVE Program, Columbus, OH, USA.
J Pediatr Urol. 2018 Apr;14(2):154.e1-154.e6. doi: 10.1016/j.jpurol.2017.11.009. Epub 2017 Dec 23.
Patients with gonadal dysgenesis (GD) with a Y chromosome have an increased risk of gonadal neoplasm. Few data exist on the ability of imaging to detect malignancy in intra-abdominal gonads in these patients.
We aimed to determine the correlation between preoperative imaging findings and gonadal pathology in GD patients with Y chromosome material.
A retrospective review was performed of patients with XY or XO/XY GD who underwent gonadectomy at our institution from 2003 to 2017. Patients were assessed preoperatively with ultrasonography; some additionally underwent MRI.
The series consisted of 10 patients, all with female gender and non-palpable gonads. Median age was 13.1 years (range 2.4-18.3 years). Overall, four of the ten patients (40%) had a tumor (gonadoblastoma or dysgerminoma) on final pathology. Four patients had a gonad or gonads that were definitively seen on ultrasonography. All visualized gonads were described as "normal" or "small" with the exception of one patient, who had a normal MRI. Three of the four patients in this group had a tumor on final pathology. The remaining six patients had a gonad or gonads that were not definitively visualized on ultrasound; one patient in this group had a tumor on final pathology. Overall, five of seven gonads (71%) definitively visualized on ultrasound had tumor on final pathology, and two of thirteen gonads (15%) not visualized on ultrasound had tumor on final pathology; this difference was statistically significant (p = 0.012). Three patients were imaged with MRI. Of the gonads that could be visualized on MRI, no definitive abnormalities were seen. All patients imaged with MRI had tumors on final pathology.
Both ultrasound and MRI are relatively poor at identifying and characterizing intra-abdominal gonads in GD patients. The majority of patients who had a neoplasm had normal imaging findings. Gonads that were definitively visualized on ultrasound were more likely to contain neoplasms that could not be visualized, which perhaps because of tumor growth. No other consistent imaging findings of malignancy were found. Our study included ultrasound evaluations that were completed over 10 years ago and not performed by pediatric ultrasonographers, which may have biased the results. However, results suggest that when discussing gonadectomy with GD patients, one should not be reassured by "normal" imaging findings. Neither ultrasound nor MRI should be relied on for surveillance in GD patients who decide against gonadectomy.
A normal ultrasound or MRI does not rule out neoplasm in GD patients with intra-abdominal gonads.
具有 Y 染色体的性腺发育不全（GD）患者发生性腺肿瘤的风险增加。关于影像学在这些患者的腹腔内性腺中检测恶性肿瘤的能力，现有数据较少。
我们旨在确定具有 Y 染色体物质的 GD 患者的术前影像学发现与性腺病理学之间的相关性。
对 2003 年至 2017 年在我院行性腺切除术的 XY 或 XO/XY GD 患者进行了回顾性研究。患者术前接受超声检查；部分患者另外行 MRI 检查。
该系列包括 10 例患者，均为女性，且无可触及的性腺。中位年龄为 13.1 岁（范围 2.4-18.3 岁）。总体而言，10 例患者中有 4 例（40%）最终病理检查发现肿瘤（性腺母细胞瘤或胚胎性癌）。4 例患者的超声检查可明确显示性腺。所有可明确显示的性腺均描述为“正常”或“小”，除 1 例患者的 MRI 正常外。在这组 4 例患者中，有 3 例最终病理检查发现肿瘤。在这组中其余 6 例患者的超声检查未明确显示性腺；其中 1 例最终病理检查发现肿瘤。总体而言，在超声检查中可明确显示的 7 个性腺中有 5 个（71%）存在肿瘤，而在超声检查中未显示的 13 个性腺中有 2 个（15%）存在肿瘤；这一差异具有统计学意义（p=0.012）。有 3 例患者行 MRI 检查。在可在 MRI 上显示的性腺中，未见明确异常。所有行 MRI 检查的患者最终病理检查均发现肿瘤。
超声和 MRI 均难以识别和描述 GD 患者的腹腔内性腺。大多数有肿瘤的患者影像学检查结果正常。在超声检查中可明确显示的性腺更有可能存在无法显示的肿瘤，这可能是由于肿瘤生长所致。未发现其他一致的恶性肿瘤影像学表现。本研究纳入了 10 年前完成的超声评估，且并非由儿科超声医师进行，这可能会使结果产生偏差。然而，结果表明，在与 GD 患者讨论性腺切除术时，不应仅因“正常”影像学发现而感到安心。对于决定不进行性腺切除术的 GD 患者，不应依赖超声或 MRI 进行监测。
在具有腹腔内性腺的 GD 患者中，正常的超声或 MRI 并不能排除肿瘤。
