ArticleBMJ case reports2020
46, XY complete gonadal dysgenesis with pubertal virilisation due to dysgerminoma/gonadoblastoma.
Article in BMJ case reports, 2020. 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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Who cites it
9 citing papers in PubMed, 11 citations in OpenAlex.
- Rare presentations of Swyer syndrome in a 13.5-year-old female; a case report and literature review.BMC pediatrics · 2025Review
- Pubertal Development as a Marker of Gonadal Neoplasm in 46XY Complete Gonadal Dysgenesis.Journal of pediatric and adolescent gynecology · 2025Article
- 46, XY Complete Gonadal Dysgenesis (Swyer Syndrome) Presenting as Primary Amenorrhea in a Normomorphic Adult Female From Kakamega, Kenya.Clinical case reports · 2025Article
- Seminoma in 46, XY Gonadal Dysgenesis: Rare Presentation and Review of the LiteratureJournal of clinical research in pediatric endocrinology · 2024Review
- Rare case of complete gonadal dysgenesis in a female patient with primary amenorrhea and a 46XY karyotype.Clinical case reports · 2024Article
- Dermatologic care of patients with differences of sex development.International journal of women's dermatology · 2023Review
- Swyer Syndrome Presenting as Dysgerminoma: A Case Report.Journal of the ASEAN Federation of Endocrine Societies · 2023Article
- Diagnosis and Management of Dysgerminomas with a Brief Summary of Primitive Germ Cell Tumors.Diagnostics (Basel, Switzerland) · 2022Review
- Gonadoblastoma with Dysgerminoma Presenting as Virilizing Disorder in a Young Child with 46, XX Karyotype: A Case Report and Review of the Literature.Case reports in endocrinology · 2022Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Complete gonadal dysgenesis (CGD) or Swyer syndrome is characterised by sexual infantilism in a phenotypic female with 46, XY karyotype. Patients with gonadal dysgenesis and Y-chromosome material are at a high risk of developing gonadoblastoma and dysgerminoma. A 16-year-old girl presented with progressive virilisation, poor breast development and primary amenorrhea. On evaluation, she was found to have male-range serum testosterone, large abdominopelvic mass lesion, elevated germ cell tumour markers and 46, XY karyotype. She underwent surgical excision of left gonadal mass and right streak gonad, histopathology of which revealed dysgerminoma and gonadoblastoma, respectively. A diagnosis of virilising germ cell tumour arising in the setting of 46, XY CGD was, therefore, made. This case highlights a rare presentation of 46, XY CGD and the need to consider early prophylactic gonadectomy in patients affected with this rare condition. The presence of dysgerminoma/gonadoblastoma should be suspected if a hitherto phenotypic female with CGD undergoes virilisation.
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