ArticleBMC research notes2015
A germ cell tumor in a patient with Swyer syndrome with ambiguous genitalia.
Article in BMC research notes, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed, 7 citations in OpenAlex.
- Swyer Syndrome: A diagnostic challenge.JBRA assisted reproduction · 2025Article
- Swyer Syndrome Presenting as Dysgerminoma: A Case Report.Journal of the ASEAN Federation of Endocrine Societies · 2023Article
- Metachronous Synovial Sarcoma After Treatment of Mixed Germ Cell Tumor in a Child with Complete Gonadal Dysgenesis.Journal of clinical research in pediatric endocrinology · 2018Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSwyer syndrome is a rare manifestation of disorders of sex development in which the individual is 46, XY in genotype but phenotypically a female. They have normal female external genitalia with under developed female internal genitalia. They usually present with primary amenorrhoea and delayed puberty but also can present with gonadal tumors in adult life. CASE PRESENTATION: A 25-year-old Sri Lankan phenotypically female having 46 XY karyotype with a history of primary amenorrhoea, presented with left loin pain associated with fever. General examination revealed a tall stature, scanty axillary and pubic hair, small breasts and clitoromegally. A tender ill-defined mass was detected in the left hypochondrial region. She had high erythrocyte sedimentation rate with elevated alkaline phosphatase and lactate dehydrogenase levels. Her serum hormonal assay revealed a low estradiol level with elevated luteinizing hormone and follicular stimulating hormone levels with normal progesterone and testosterone levels. Computerized tomography of abdomen showed a large complex mass lesion in relation to antero-medial aspect of the lower pole of the left kidney with para-aortic and left common iliac lymph nodes. The diagnostic laparoscopy confirmed the presence of internal female genitalia and the mass lesion was seen in left para-aortic region. The histology revealed a germ cell tumor compatible with a dysgerminoma.
conclusionPatients with Swyer syndrome can present with gonadal tumors, typically a dysgerminoma in their adult life.
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