Prenatal diagnosis of 46,XX testicular disorder of sex development with SRY-positive: A case report and review of the literature

We report a case of a fetus with 46,XX testicular disorder of sex development detected prenatally. This fetus was found abnormally due to non‐invasive prenatal testing. Amniocentesis revealed SRY gene on the X chromosome of the fetus. The related literature was reviewed, and the advantages and limit...

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Bibliographic Details
Published in:European journal of obstetrics & gynecology and reproductive biology 2023-10, Vol.289, p.140-144
Main Authors: Shen, Huimin, Liu, Yu, Wang, Chao, Wang, Ruijing, Di, Zhixin, Huang, Xin, Zhang, Haomiao, Liu, Meimei
Format: Article
Language:English
Subjects:
46,XX disorders of sex development
Fetus
Genes
Prenatal diagnosis
SRY
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Summary:We report a case of a fetus with 46,XX testicular disorder of sex development detected prenatally. This fetus was found abnormally due to non‐invasive prenatal testing. Amniocentesis revealed SRY gene on the X chromosome of the fetus. The related literature was reviewed, and the advantages and limitations of various prenatal diagnostic techniques were discussed. The combination of non‐invasive prenatal testing and various prenatal diagnostic techniques has enabled more fetuses with sex reversal to be detected.
ISSN:0301-2115
1872-7654
DOI:10.1016/j.ejogrb.2023.08.393