Tumors of Bilateral Streak Gonads in Patients with Disorders of Sex Development Containing Y Chromosome Material

Abstract

The presence of Y chromosome material in patients with disorders of sex development (DSD) has been associated with a high risk of gonadoblastoma. Therefore, gonadectomy is recommended in females with bilateral streak gonads and Y chromosome material. The aim of this study was to present our experience with prophylactic gonadectomy in those patients and evaluate their risk of gonadal tumors. We reviewed the charts of 11 female patients who had bilateral gonadectomy (by laparoscopically in 9 patients, by laparotomy in 2 patients) between 1991 and 2012 at our hospital. Seven patients with Turner syndrome (TS) who carry a Y mosaic karyotype in peripheral blood, 3 patients with Swyer syndrome and one patient with Frasier syndrome were included. All patients had an unambiguous female phenotype. Age at surgery and follow-up ranged from 2 to 23 (mean 11) and 0.5 to 20 (mean 8) yr, respectively. Pathologic examination revealed gonadal tumors in 6 of 11 patients (56%), including 4 with TS, the youngest of which was 2 yr old, one with Swyer syndrome and one with Frasier syndrome. A gonadoblastoma was detected in 8 gonads, and an association of dysgerminoma with gonadoblastoma was detected in 2 gonads. Imaging studies showed no metastasis, and the postoperative course was uneventful in all patients. In our series of DSD patients with bilateral streak gonads and Y chromosome material, the risk of gonadal tumor was high. Considering the early occurrence of gonadoblastoma and its high potential for malignant transformation, early prophylactic gonadectomy is strongly recommended.

Prevalência de sequências do Y e de gonadoblastoma em síndrome de Turner

“…A recent histopathological study reported gonadal tumors in 6 out of 11 patients (56%), including 4 out of 7 (57%) with TS 7. Two patients with TS had gonadoblastoma in the right and left gonads [karyotypes and age at gonadectomy, respectively: 45,X/45,X,t (15; Y)(p11.2; q11.2) and 2 years and 11 months; 45,X/46,XY and 10 years and 3 months].…”

“…In another study with 11 patients with sexual differentiation disorders, 7 had Turner phenotype and mosaic karyotype Y in peripheral blood 7. All patients with TS underwent gonadectomy, and histopathological findings revealed that four of them (57.1%) had gonadoblastoma, and in two cases it was associated with dysgerminoma 7. Regarding the classical cytogenetic analysis by GTG banding, peripheral blood lymphocytes are the material of choice because it is easy to harvest this tissue, and the analysis is usually performed in 30 metaphases, which allows detection of 10% of mosaicism 8.…”

“…In one such study, 33% of patients (4/12) had gonadoblastoma and in two patients it progressed to disgerminona or teratoma 6. In another study with 11 patients with sexual differentiation disorders, 7 had Turner phenotype and mosaic karyotype Y in peripheral blood 7. All patients with TS underwent gonadectomy, and histopathological findings revealed that four of them (57.1%) had gonadoblastoma, and in two cases it was associated with dysgerminoma 7.…”

“…Em um desses estudos, 4/12 (33%) das pacientes exibiram gonadoblastoma e em duas esse evoluiu para disgerminona ou teratoma 6. Em outro, com 11 pacientes com distúrbios de diferenciação sexual, sete mostraram fenótipo Turner e cariótipo mosaico de Y em sangue periférico 7. Todas as pacientes com ST foram submetidas à gonadectomia e os achados histopatológicos revelaram que quatro delas (57,1%) tinham gonadoblastoma e em dois casos associação desse com disgerminoma 7.…”

Early Bilateral Gonadoblastoma in a Young Child with Mosaicism for Turner Syndrome and Trisomy 18 with Y Chromosome

“…Hence, the occurrence of GB in this young child with a low index of suspicion supports the current recommendations to proceed to gonadectomy as soon as the genetic diagnosis is made. Previous cases of young age of GB in the setting of TMSY have been described in the literature with the youngest to date aged 14 months [20] and recent reports in under 3 years [21], and as young as 9 months in 46,XY gonadal dysgenesis [22]. A recent report on GB in TMSY showed evidence of GB in a patient as young as 5 months and postulates that GB is diagnosed more commonly in the second decade of life due to later diagnoses of TMSY and consequent later elective gonadectomy procedures, rather than later new onset of GB.…”