ArticleClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology2014
Tumors of bilateral streak gonads in patients with disorders of sex development containing y chromosome material.
Article in Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9 citing papers in PubMed, 29 citations in OpenAlex.
- Swyer syndrome complicated by rapidly progressive invasive ovarian dysgerminoma with bladder and rectal direct invasion: a rare case report.Frontiers in oncology · 2026Article
- Ultrasonography for disorders of sex development in pediatrics.Frontiers in pediatrics · 2025Article
- Article
- Gonadoblastoma in a patient with 45,X/46XY mosaicism.Ecancermedicalscience · 2023Article
- Gonadal tumor risk in pediatric and adolescent phenotypic females with disorders of sex development and Y chromosomal constitution with different genetic etiologies.Frontiers in pediatrics · 2022Article
- Systematic Review of Genotype-Phenotype Correlations in Frasier Syndrome.Kidney international reports · 2021Article
- 46, XY disorder of sex development (DSD) complicated by a serous borderline tumor of the ovary: a case report and review of the literature.Diagnostic pathology · 2020Review
- [Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndrome].Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao PauloReview
- A case of swyer syndrome associated with advanced gonadal dysgerminoma involving long survival.Case reports in oncologyArticle
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3 authors at 1 institution in 1 country.
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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.
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