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Tumors of bilateral streak gonads in patients with disorders of sex development containing y chromosome material.

Matsumoto F, Shimada K, Ida S - Clin Pediatr Endocrinol (2014)

Bottom Line: 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.Imaging studies showed no metastasis, and the postoperative course was uneventful in all patients.

View Article: PubMed Central - PubMed

Affiliation: Department of Urology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.

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.

No MeSH data available.


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Dysgerminoma with gonadoblastoma in the left gonad of case#6.
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fig_001: Dysgerminoma with gonadoblastoma in the left gonad of case#6.

Mentions: Pathologic examination revealed gonadal tumors in 6 of 11 patients (56%), including 4 of 7patients (57%) with TS, one of 3 patients (33%) with Swyer syndrome and the one patient withFrasier syndrome. The youngest patient was a 2-yr-old girl with TS. Four of these 6 patients(67%) had bilateral tumors. A gonadoblastoma was detected in 8 gonads, in 5 patients, and anassociation of dysgerminoma with gonadoblastoma (Fig.1Fig. 1.


Tumors of bilateral streak gonads in patients with disorders of sex development containing y chromosome material.

Matsumoto F, Shimada K, Ida S - Clin Pediatr Endocrinol (2014)

Dysgerminoma with gonadoblastoma in the left gonad of case#6.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4125601&req=5

fig_001: Dysgerminoma with gonadoblastoma in the left gonad of case#6.
Mentions: Pathologic examination revealed gonadal tumors in 6 of 11 patients (56%), including 4 of 7patients (57%) with TS, one of 3 patients (33%) with Swyer syndrome and the one patient withFrasier syndrome. The youngest patient was a 2-yr-old girl with TS. Four of these 6 patients(67%) had bilateral tumors. A gonadoblastoma was detected in 8 gonads, in 5 patients, and anassociation of dysgerminoma with gonadoblastoma (Fig.1Fig. 1.

Bottom Line: 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.Imaging studies showed no metastasis, and the postoperative course was uneventful in all patients.

View Article: PubMed Central - PubMed

Affiliation: Department of Urology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.

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.

No MeSH data available.


Related in: MedlinePlus