Triorchidism: genetic and imaging evaluation in an adult male

• Published in: Archivio italiano di urologia, andrologia Vol. 86; no. 2; pp. 156 - 157
• Main Authors: Belba, Arben, Riversi, Valentina, Mari, Francesca, Cellesi, Eleonora, Ponchietti, Roberto
• Format: Journal Article
• Language: English
• Published: Italy PAGEPress Publications 30.06.2014
• Subjects: Chromosome Aberrations; Chromosomes, Human, 1-3; Chromosomes, Human, 16-18; Congenital Abnormalities - diagnostic imaging; Congenital Abnormalities - genetics; Cytogenetic evaluation; Humans; Male; Middle Aged; MRI; Polyorchidism; Testis - abnormalities; Testis - diagnostic imaging; Ultrasonography
• ISSN: 1124-3562; 2282-4197
• DOI: 10.4081/aiua.2014.2.156

We report the results of imaging and cytogenetic studies in a case of triorchidism in a 54 years old male without any associated anomaly. A scrotal ultrasonography revealed the presence of two testes within the left hemiscrotum with complete septation and echotexture and vascular flow pattern similar to the vascular flow of the normal right testis. There was no focal abnormal echogenicity suggesting malignancy. Scrotal MRI confirmed two soft-tissue structures in the left hemiscrotum with normal signal intensity at T1w and T2w images. Both testes had a tunica albuginea with low-signal intensity. Cytogenetic analysis resulted in normal male karyotype 46XY. Array-CGH analysis detected the presence of two interstitial rearrangements: a ~120 Kb deletion of chromosome 1 and a ~140 Kb deletion of chromosome 16. Currently there are little details on the functions of both genes.