Video-Assisted Gonadectomy in Children with Ullrich Turner Syndrome or 46,XY Gonadal Dysgenesis

Abstract

Patients with dysgenetic gonads carry a high risk for the development of gonadal neoplasia. The aim of the study is to evaluate indications and feasibility of laparoscopy and video-assisted prophylactic gonadectomy in children with Ullrich Turner syndrome (UTS) or 46,XY gonadal dysgenesis (GoDy). Between 1996 and December 2002 five girls with UTS and nine patients with 46,XY GoDy (female gender role) were explored by laparoscopy. Video-assisted salpingo-oophorectomy or gonadectomy was performed using a three-port technique. Prophylactic salpingo-oophorectomy was exclusively performed in UTS patients with proven presence of translocated parts of the Y chromosome. In three patients with 46,XY GoDy laparoscopy was followed by surgical revision of the groin and open gonadectomy in four patients. In two cases with UTS the removed streak gonads contained small unilateral tumours stage pT1a, and in four cases of 46, XY GoDy histopathological investigation revealed bilateral neoplasms stage pT1b. We found the following tumour types: gonadoblastoma, dysgerminoma, testicular intraepithelial neoplasia, and mature teratoma. In conclusion, investigative laparoscopy gives a good image of the internal genital structures and allows the safe removal of the dysgenetic gonads during the same operation. The high rate of gonadal tumours underlines the indication for early gonadectomy in these patients.

Occurrence of Gonadoblastoma in Patients with 45,X/46,XY Mosaicism

“…In 3 of the series, the average age at surgery was 10.3, 13.0, and 12.2 years old, respectively. 8,11,12 Our patients were younger at surgery. While a younger age at gonadectomy may result in a lower incidence of dysgerminoma, the incidence of gonadoblastoma should be similar, as these tumors are thought to be present at a very young age or even at birth.…”

“…17 One small series included a 5-year-old girl with unilateral dysgerminoma. 11 Another series described a 15-year-old girl with mosaicism on molecular cytogenetic analysis who had unilateral gonadoblastoma, immature teratoma, and endodermal sinus tumor. 12 Dysgerminoma has been reported to appear in conjunction with gonadoblastoma in more than half of cases, and gonadoblastoma is therefore thought to be a premalignant lesion.…”

Tumors of dysgenetic gonads in Swyer syndrome

“…Thus, postoperative chemotherapy was unnecessary, but because of the malignant character of the tumor, close follow-up with measurement of tumor markers and second-look laparoscopy was recommended. Although we fully appreciate the safety and benefits of laparoscopic gonadectomy, we believe that this procedure cannot be recommended if the presence of a malignant tumor is suspected [2,11].…”

Germ Cell Tumors in the Intersex Gonad: Old Paths, New Directions, Moving Frontiers

“…In two series of patients with 46,XY GD, the tumor prevalence is 30 -33% (17,63). However, one series of 11 patients with 46,XY dysgenetic male pseudohermaphroditism reports CIS in 100% of cases (64).…”