We report the results of imaging and

cytogenetic studies in a case of tri- orchidism 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 septa- tion 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 chro- mosome 1 and a ~140 Kb deletion of chromosome 16. Currently there are little details on the functions of both genes

Arben, Belba

Eleonora, Cellesi

Mari, Francesca

Ponchietti, Roberto

Riversi, Valentina

Archivio Italiano di Urologia e Andrologia

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.</jats:p

Arben Belba

Valentina Riversi

Francesca Mari

Eleonora Cellesi

Roberto Ponchietti

Crossref

Triorchidism: Genetic and imaging evaluation in an adult male

We report the results of imaging and
cytogenetic studies in a case of tri- orchidism 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 septa- tion 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 chro- mosome 1 and a ~140 Kb deletion of chromosome 16. Currently there are little details on the functions of both genes

RIVERSI, VALENTINA

MARI, FRANCESCA

PONCHIETTI, ROBERTO

Archivio della Ricerca - Università degli Studi di Siena

Archivio Italiano di Urologia e Andrologia 2014; 86, 2156CASE REPORTTriorchidism: Genetic and imaging evaluation in an adult maleArben Belba 1, Valentina Riversi 2, Francesca Mari 3, Eleonora Cellesi 1, Roberto Ponchietti 11 Urological and Andrological Unit, Department of Medicine, Surgery and Neuroscience, Siena, Italy;2 Imaging Department AOUS of Siena, Italy;3 Medical Genetics Unit, Department of Medical Biotechnologies, Siena, Italy.We report the results of imaging andcytogenetic studies in a case of tri-orchidism in a 54 years old male without any associatedanomaly.A scrotal ultrasonography revealed the presence of twotestes within the left hemiscrotum with complete septa-tion  and echotexture and vascular flow pattern similarto the vascular flow of the normal right testis. There was no focal abnormal echogenicity suggestingmalignancy.  Scrotal MRI confirmed two soft-tissuestructures in the left hemiscrotum with normal signalintensity at T1w and T2w images. Both testes had atunica albuginea with low-signal intensity.Cytogenetic analysis resulted in normal male karyotype46XY. Array-CGH analysis detected the presence of twointerstitial rearrangements: a ~120 Kb deletion of chro-mosome 1 and a ~140 Kb deletion of chromosome 16.Currently there are little details on the functions of bothgenes. KEY WORDS: Polyorchidism; Ultrasonography; MRI;Cytogenetic evaluation.Submitted 4 January 2014; Accepted 31 January 2014SummaryINTRODUCTIONPolyorchidism is a rare genital anomaly defined by thepresence of supernumerary testes usually within thescrotum. To date there have been almost 200 casesreported in the literature (1, 2). The most common pres-entation of polyorchidism is triorchidism with the super-numerary testis being confined to the left side. The exactmechanism for occurence of polyorchidism is stillunknown. Several theories have been proposed, includ-ing peritoneal folding, segmentation of the primitivegonads, longitudinal or transverse division of the genitalridge. No single theory can explain all types of poly-orchidism since some involve testicular tissue only andothers involve complete duplication of the testis, epi-didymis and vas deferens (3, 4). Most cases of poly-orchidism are found incidentally in association withundescended testis, hydrocele, hernia or torsion. It isalso reported as increased risk of testicular malignancy.No conflict of interest declared.CASE REPORTA 54 years old man presented to our outpatientsDepartment with complaints of erectile dysfunction. Hispast medical history revealed diabetes type 1 since theage of 28 years and 10-year history of a left-sided scrotalswelling associated with some discomfort. He was mar-ried and fathered two daughters. Abdominal examination was normal with no palpablemass or groin herniae. Scrotal examination revealed anormal right testis and scrotal content, but on the leftside there were two similar size lumps. Laboratory stud-ies, including hormonal and oncological markers, werewithin normal limits.A scrotal ultrasonography revealed the presence of 2testes within the left hemiscrotum with complete septa-tion  and echotexture and vascular flow pattern similarto the vascular flow of the normal right testis. There wasno focal abnormal echogenicity suggesting malignancy(Figure 1). Scrotal MRI confirmed 2 soft-tissue structuresin the left hemiscrotum with normal signal intensity atT1w and T2w images. Both testes had a tunica albugineawith low-signal intensity (Figure 2). Chromosomal preparations for the karyotype analysiswere obtained according to standard techniques.Cytogenetic analysis at a resolution of 400 bands result-ed in normal male karyotype 46XY.Patient DNA was analysed by Array-CGH analysis usinga commercially available oligonucleotide microarrayscontaining about 44.000 60-mer probes (HumanGenome CGH Microarray 44B Kit, Agilent Technologies,Santa Clara, California) according to the manufacturer’sinstructions. Array-CGH analysis detected the presence of two intersti-tial rearrangements: a ~120 Kb deletion of chromosome1(arr1q31.1(79,356,819-79,476,571)x1) and a ~140 Kbdeletion of chromosome 16 (arr 16q22.1(70,052,164-70,193,889)x1). Parents were not available for testing.The microdeletion of chromosome 1 includes the ELTD1(latrophilin and seven transmembrane domain contain-ing1) gene, while the microdeletion of chromosome 16includes the PDPR (Pyruvate Dehydrogenase PhosphataseRegulatory Subunit) gene. Currently there are little detailson the functions of both genes. The protein encoded byELTD1 could be involved in cardiac development. TheDOI: 10.4081/aiua.2014.2.156157Archivio Italiano di Urologia e Andrologia 2014; 86, 2Triorchidism: genetic and imaging evaluation in an adult maleprotein encoded by PDPR is a regulatory subunit ofhuman mitochondrial pyruvate dehydrogenase phos-phatase. It decreases the sensitivity of PDP1 to magne-sium ions, and this inhibition is reversed by thepolyamine spermine. Both these proteins are expressedalso in testis. A diagnosis of triorchidism was made and the patientwas placed in sonographic follow up.Figures are reported in Supplementary materialsposted on www.aiua.itDISCUSSIONPolyorchidism is a rare congenital anomaly defined bythe presence of more than two histologically proventestes. The commonest variant is triorchidism, the super-numerary testis being commonly reported on the leftside which often appears as a painless scrotal mass ormay be found as an incidental finding on sonography.Ultrasonography is diagnostic, MRI plays a confirmatoryrole and may provide additional information in condi-tions that may complicate polyorchidism, such as tor-sion, cryptorchidism and neoplasia (4-6).Most patients with polyorchidism have a normal 46XYkaryotype and adult patients have normal secondary sex-ual characteristics. Because polyorchidism is rare andpoorly described, genetic studies are lacking. Chromosomal abnormality such deletion of the long armof chromosome 21 has been reported in a severe mal-formed male newborn (7).The current knowledge does not allow to attribute acausative role to the aploinsufficency of two genes indetermining the phenotype of our patient. AdditionalArray-CGH analysis in patients with supernumerarytestis are required to increase data and to define the roleof these genes in the pathogenesis of polyorchidism.Management of polyorchidism has been the subject ofmuch debate (8). The incidence of testicular malignancyin polyorchidism is between 5.7-7% and was found onlyin a non-scrotal (abdominal or inguinal) supernumerarytestis. With recent improvements in imaging techniquessuch as ultrasound and MRI scans, most cases of poly-orchidismc can be diagnosed and followed up accurate-ly without any need for surgical exploration or histolog-ical examination. Conservative treatment with sono-graphic follow-up is the choice of treatment in uncom-plicated cases (9).REFERENCES1. Bergholz R, Wenke K, Polyorchidism: A Meta-Analysis. J Urol.2009; 182:2422-2427.2. Savas M, Yeni E, Ciftci H, et al. Polyorchidism: a three-case reportand review of the literature Andrologia 2010; 42:57-61. 3. Thum G, Polyorchidism: case report and review of literature.J Urol. 1991; 145:370-372.4. Singer BR, Donaldson JG, Jackson DS. Polyorchidism: functionalclassification and management strategy. Urology. 1992; 39:384-388.5. Chung TJ, Yao WJ.  Sonographic features of polyorchidism.  J ClinUltrasound. 2002; 30:106-108.6. Yalçınkaya S, Sahin C, Sahin AF. Polyorchidism: sonographic andmagnetic resonance imaging findings. Can Urol Assoc J.  2011;5:84-86.7. Arslanoglu A, Tuncel SA, Hamarat M. Polyorchidism: colorDoppler ultrasonography and magnetic resonance imaging findings.Clin Imaging.  2013; 37:189-191.8. Shabtai F, Schwartz A, Hart J, et al. Chromosomal anomaly andmalformation syndrome with abdominal polyorchidism. J Urol.1991; 146:833-834.9. Nayak SP, Sreejayan MP. Management of supernumerary testis inan adult: case report and review. Andrologia  2011; 43:149-152. CorrespondenceRoberto Ponchietti, MD (Corresponding Author)roberto.ponchietti@unisi.itEleonora Cellesi, MDArben Belba, MDUrological and Andrological Unit, Department of Medicine,Surgery and Neuroscience, University of Siena, Siena, ItalyValentina Riversi, MD Imaging Department AOUS of Siena, Siena, Italy Francesca Mari, MD PhD  Medical Genetics Unit, Department of Medical Biotechnologies,Siena, ItalyFigure 1.A. Sagittal sonographic image of the left scrotum showingtwo testicles completely separated. The supernumerarytestis is smaller and superior to the more normal-sizedand it appears as an oval, isoechoic mass with ahomogeneously echogenic pattern identical to that of theother testicle; they share the epididymis and the vasdeferens. B. Color Doppler image showing the same vascularpattern of the normal and accessory testicle.C. Both testicles have approximately the same size.

Triorchidism: genetic and imaging evaluation in an adult male

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

Triorchidism: genetic and imaging evaluation in an adult male

Abstract

Similar works

Full text

Available Versions

Crossref

Archivio della Ricerca - Università degli Studi di Siena

Directory of Open Access Journals