SRY-Positive 46, XX Testicular Disorder of Sexual Development With Leydig Cell Tumor

The risk of a gonadal tumor is high in testicular disorder of sexual development (DSD) with the Y chromosome, but cases of DSD without the Y chromosome are extremely rare. We reported a gonadal tumor in a phenotypically male individual with 46, XX testicular DSD. A testicular tumor was incidentally...

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Bibliographic Details
Published in:American journal of men's health 2020-09, Vol.14 (5), p.1557988320970071-1557988320970071
Main Authors: Osaka, Akiyoshi, Ide, Hisamitsu, Matsuoka, Kentaro, Iwahata, Toshiyuki, Kobori, Yoshitomo, Ban, Shinichi, Okada, Hiroshi, Saito, Kazutaka
Format: Article
Language:English
Subjects:
Case Report
Differences of sex development
Testes
Testicular cancer
Tumors
Y chromosomes
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Summary:The risk of a gonadal tumor is high in testicular disorder of sexual development (DSD) with the Y chromosome, but cases of DSD without the Y chromosome are extremely rare. We reported a gonadal tumor in a phenotypically male individual with 46, XX testicular DSD. A testicular tumor was incidentally found in a 32-year-old phenotypic male who was presented to the hospital with male infertility. A diagnosis of 46, XX testicular DSD was made by the presentation of karyotype analysis of 46, XX with the sex-determining region of the Y chromosome (SRY) positive and gonadal tissue without female gonads. Surgery was performed due to a gradually growing tumor. The partial orchidectomy was performed with the diagnosis of a benign Leydig cell tumor in frozen biopsy.
ISSN:1557-9883
1557-9891
DOI:10.1177/1557988320970071