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 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.
['Osaka|Akiyoshi|A|0000-0002-5159-8028', 'Ide|Hisamitsu|H|', 'Matsuoka|Kentaro|K|', 'Iwahata|Toshiyuki|T|', 'Kobori|Yoshitomo|Y|', 'Ban|Shinichi|S|', 'Okada|Hiroshi|H|', 'Saito|Kazutaka|K|0000-0002-7261-0188']
D000328:Adult D001706:Biopsy D041322:Chromosomes, Human, Y D005260:Female D006801:Humans D033162:Incidental Findings D007248:Infertility, Male D007984:Leydig Cell Tumor D008297:Male D009919:Orchiectomy D051876:Sex-Determining Region Y Protein D046468:Sexual Development D013736:Testicular Neoplasms D013737:Testis
46 Leydig cell tumor XX testicular DSD SRY