ReviewJournal of clinical medicine2024
A Risk of Gonadoblastoma in Familial Swyer Syndrome-A Case Report and Literature Review.
Review in Journal of clinical medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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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
5 citing papers in PubMed, 7 citations in OpenAlex.
- Pubertal Development as a Marker of Gonadal Neoplasm in 46XY Complete Gonadal Dysgenesis.Journal of pediatric and adolescent gynecology · 2025Article
- Swyer syndrome in a Syrian female: A rare case report.The Journal of international medical research · 2025Article
- Molecular pathogenesis, diagnosis, and management challenges in complete androgen insensitivity syndrome.Frontiers in endocrinology · 2025Review
- SRY+ Derivative X Chromosome in a Female With Apparently Typical Sexual Development.Molecular genetics & genomic medicine · 2024Article
- Germ cell and other tumors in individuals with differences in sex development.CA: a cancer journal for cliniciansReview
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A complete gonadal dysgenesis (CGD) with 46,XY karyotype is known as the Swyer syndrome and belongs to the group of 46,XY differences of sex development (DSD). The main problem in patients with Swyer syndrome is the delayed puberty and primary amenorrhea. Moreover, intrabdominal dysgenetic gonads in the patient with genetic material of a Y chromosome may conduce to the development of gonadal tumors, such as gonadoblastoma or germinoma. The management of such patients is based on preventive excision of dysgenetic gonads and long-term hormonal replacement therapy. Sporadic cases are considered more common than familial cases. This paper presents two siblings with Swyer syndrome in whom gonadoblastoma was found. A thorough review of familial CGD with 46,XY DSD in the literature from the last 15 years suggests that the risk of gonadal tumors could be increased in familial compared to sporadic cases (66.6% vs. 15-45%, respectively).
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.