Taskovska Milena, Hawlina Simon
Department of Urology, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Division of Surgery, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
J Endourol Case Rep. 2020 Dec 29;6(4):332-335. doi: 10.1089/cren.2020.0065. eCollection 2020.
Silver-Russell syndrome is a rare genetic disorder, occurring in ∼1/50,000 to 1/100,000 births. Anomalies of the urogenital tract such as hypospadias and cryptorchidism can be present. Testicular torsion is a urologic emergency that is most common in prepubertal boys. In patients with cryptorchidism, it can present with abdominal pain and nonspecific symptoms and can mimic other intra-abdominal emergency conditions. A 21-year-old man presented in emergency room at our hospital with acute right lower abdominal pain. Abdominal ultrasonography excluded acute appendicitis, atypical mass on the right side of the bladder was identified. Later, he reported history of inguinal exploration caused by undescended right testis in infancy where testis was not found, and Silver-Russell syndrome. Contrast-enhanced abdominal CT scan revealed an atypical mass on the right side of the bladder, suspicious for torsion of undescended testis, or tumor. Tumor markers for testicular cancer were negative. The patient underwent robot-assisted laparoscopic orchidectomy for torsion of undescended intra-abdominal testis. Histopathologic examination excluded malignancy. Testicular torsion should be considered as the cause of acute abdominal pain in patients with undescended testis and rare genetic disorders. Robot-assisted laparoscopic surgical exploration has the advantage of better exposure and visibility and should be considered in such cases.
Silver-Russell综合征是一种罕见的遗传性疾病,发病率约为1/50000至1/100000活产儿。可能存在泌尿生殖道异常,如尿道下裂和隐睾症。睾丸扭转是一种泌尿外科急症,在青春期前男孩中最为常见。在隐睾症患者中,可表现为腹痛和非特异性症状,并可模拟其他腹部急症情况。一名21岁男性因急性右下腹痛就诊于我院急诊室。腹部超声排除了急性阑尾炎,发现膀胱右侧有非典型肿块。后来,他报告了婴儿期因右侧睾丸未降导致腹股沟探查的病史,当时未发现睾丸,以及Silver-Russell综合征。腹部增强CT扫描显示膀胱右侧有一个非典型肿块,怀疑为未降睾丸扭转或肿瘤。睾丸癌肿瘤标志物为阴性。该患者接受了机器人辅助腹腔镜下未降腹腔内睾丸扭转切除术。组织病理学检查排除了恶性肿瘤。对于睾丸未降和罕见遗传性疾病的患者,应考虑睾丸扭转是急性腹痛的原因。机器人辅助腹腔镜手术探查具有更好的暴露和视野优势,在此类病例中应予以考虑。