SRY-Positive 46, XX Testicular Disorder of Sexual Development With Leydig Cell Tumor. Issue 5 (October 2020)

• Record Type: Journal Article
• Authors: Osaka, Akiyoshi; Ide, Hisamitsu; Matsuoka, Kentaro; Iwahata, Toshiyuki; Kobori, Yoshitomo; Ban, Shinichi; Okada, Hiroshi; Saito, Kazutaka
• Is Part Of: American journal of men's health. Volume 14:Issue 5(2020)
• Publication Date: 2020-10
• Subjects: 46 -- XX testicular DSD -- SRY -- Leydig cell tumor; Men -- Diseases -- Periodicals; Sex factors in disease -- Periodicals; Men -- Health and hygiene -- Periodicals; Men -- Health and hygiene -- United States -- Periodicals; Men -- Medical care -- Periodicals; 362.10811
• DOI: 10.1177/1557988320970071
• Languages: English
• ISSNs: 1557-9883

Abstract

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.