46, XY complete gonadal dysgenesis with pubertal virilisation due to dysgerminoma/gonadoblastoma

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 prog...

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Podrobná bibliografie
Vydáno v:BMJ Case Rep
Hlavní autoři: Alam, Sarah, Boro, Hiya, Goyal, Alpesh, Khadgawat, Rajesh
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 2020
Témata:
Unusual Association of Diseases/Symptoms
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7342828/
https://ncbi.nlm.nih.gov/pubmed/32641439
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2020-235501
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