Testicular microlithiasis: Prevalence and risk of concurrent and interval development of testicular tumor in a referred population

Department of Urology, Ayr Hospital, Dalmellington Road, Ayr, KA6 6DX, UK.
International Urology and Nephrology (Impact Factor: 1.52). 02/2007; 39(4):1177-81. DOI: 10.1007/s11255-007-9203-0
Source: PubMed


To identify prevalence of testicular microlithiasis on ultrasound in a referred population and risk of concurrent and interval testicular tumor development.
Retrospective review of our radiology database revealed 4363 scrotal ultrasounds were performed over a six-year period. Ultrasound findings were correlated with our hospital pathological database. The association of intratesticular microlithiasis and confirmed testicular cancers were assessed by means of a Fisher exact test.
Testicular microlithiasis was identified in 32 of the 4259 patients (0.75% of screened population). In the same time period 83 testicular tumors were identified on initial scanning (2.00% of screened population). Three patients with tumor had coexisting microlithiasis (9.4% incidence), whilst a further two had interval development of tumor. The follow-up of the microlithiasis patients ranged from 3 to 72 months (mean 33.9 months, median 40 months).
Interval development of testicular tumor is a documented phenomenon. As the incidence in detection of microlithiasis increases secondary to advances in ultrasound technology, follow-up becomes financially prohibitive. We advocate regular self-examination as the primary follow-up of otherwise well patients with testicular microlithiasis.

7 Reads
  • [Show abstract] [Hide abstract]
    ABSTRACT: Bij drie jongens van respectievelijk 15, 9 en 10 jaar werd door middel van echografie de diagnose testiculaire microlithiasis (TM) gesteld. Twee van hen hadden geen klachten, één klaagde over pijn in de testis. TM wordt gekenmerkt door meerdere echorijke foci in de tubuli seminiferi zonder slagschaduw. De oorzaak is grotendeels onbekend. Bij volwassenen bedraagt de prevalentie tussen de 0,2 en 29%, bij jongens tussen de 0,1 en 11,7%. Er zijn aanwijzingen dat TM geassocieerd is met maligne aandoeningen van de testis. Alhoewel er bij volwassenen geen eensluidende richtlijn voor follow-up bestaat, wordt veelal jaarlijkse follow-up geadviseerd. Voor jongens bestaan vrijwel geen richtlijnen. Een driemaandelijks zelfonderzoek gecombineerd met jaarlijks lichamelijk onderzoek en echografie is raadzaam, vooral bij jongens met een al verhoogd risico op testismaligniteiten zoals jongens met een niet-scrotale testis. De prognose, evenzeer ten aanzien van de fertiliteit, is grotendeels onbekend. In three boys aged 15, 9, and 10 years respectively scrotal ultrasound revealed testicular microlithiasis (TM). Two boys were free of symptoms and one suffered from testicular pain. TM is characterized by multiple echogenic foci within the seminiferous tubules with no acoustic shadowing. The pathophysiology is largely unknown. In adult men, TM prevalence has been reported to range from 0.2 to 29%. In boys the prevalence rate varies from 0.1 to 11.7%. There are indications that TM might be associated with malignant conditions of the testes. Although in adult men the method of follow-up is controversial, annual follow-up is usually recommended. In pediatric patients virtually no follow-up guidelines exist. Testicular self-examination, for example three monthly, and annual ultrasound in addition to physical examination might be warranted especially in boys with undescended testis who are already at risk for malignant transformation in the cryptorchid testis. Prognosis, as well as with regard to fertility, is largely unknown.
    No preview · Article · Feb 2008 · Tijdschrift voor kindergeneeskunde
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Soft tissue calcification in the human body can be considered part of a process of continuous degeneration which we tend to designate as “aging”. Being an example of technological wit and superb bio-engineering second to none, even the decay of this corpus can hardly be considered a random or passive event. On the contrary, calcium precipitation is regulated quite tightly by an intruiging interplay between stimulatory proteins and inhibitory factors. Thus, it has been foreseen man not to be turned into a chalk pillar in his prime years, but rather to endure a much slower process of gradual mineralization. But when this brilliant regulatory opus starts failing, the reign of human pathology is entered, confronting the body with ectopic mineralization disorders. One of the archetypes of such disease is pseudoxanthoma elasticum or PXE, in which ectopic mineralization of elastic fibres causes skin, ocular and cardiovascular complications. Despite its identification more than two centuries ago, PXE has – as many genetic disorders – always been surrounded by a haze of mystery. It is the aim of this thesis to contribute to the clinical, molecular and histopathological characterization of this fascinating disease. Through careful characterization of the PXE patient cohort followed at the Ghent Center for Medical Genetics, we were able to emphasize important clinical features, such as stroke and peripheral artery disease, as well as identifying novel phenotypical features in patients and carriers, among which were abdominal calcifications and testicular microlithiasis. Also the question of a limited or subclinical phenotype in PXE carriers was addressed and we showed them to be more prone to cardiovascular disease, next to limited ophthalmological symptoms represented by comets and comet tails. In an exploratory pilot study among over 200 consecutive ischemic stroke patients, ABCC6 hotspot analysis yielded a significant increase in ABCC6 mutations compared to a healthy reference population. This signified another example of heterozygous carriers being prone to cardiovascular and/or cerebrovascular disease and introduced the ABCC6 gene in stroke research. In single and multi-center studies, this thesis contributed to the characterization and expansion of the ABCC6 mutation spectrum, as well as the exclusion of genotype-phenotype correlations. The applied molecular strategy for mutation analysis of the ABCC6 gene proved to be an efficient and cost-effective method, yielding the highest mutation detection rate so far. Also, the continuous discussion on the mode of inheritance and in particular the existence of an autosomal dominant form of PXE could be addressed constructively. Throughout the clinical follow-up of PXE patients, we applied novel fundus imaging techniques, such as autofluorescence and infrared imaging, with substantial improvement of the diagnostic capacities of limited or subtle lesions in fundo. Through collaborative efforts, the importance of electrophysiological abnormalities – subdivided in three retinopathy phenotypes – was brought to attention. Within the span of this PhD thesis, a novel phenotype was identified and characterized both clinically and molecularly. This novel autosomal recessive disorder was coined the PXE-like syndrome, because of its resemblance with classic PXE, and was proven to be caused by mutations in the GGCX gene. Encoding the gamma-carboxylase, an enzyme important in the vitamin K (VK)-cycle, this observation implicated VK and proteins depending on this vitamin – among which are several inhibitors of mineralization – in the pathogenesis of the PXE-like syndrome and hence PXE. Through various immunohistochemical and ELISA methods, VK-dependent inhibitors of calcification were shown to be inactive or defective in these syndromes, leading to ectopic mineralization in the PXE-like syndrome but also in PXE patients. These observations could be attributed to the GGCX mutations in the PXE-like syndrome. The observation of extremely low VK serum levels – an essential co-factor for protein carboxylation in the VK-cycle – in PXE patients explained why the VK-cycle is defective in PXE. The exact link with the impaired ABCC6 transporter remains unclear, although it is tempting to think of VK or one of its associated molecules as the substrate of ABCC6. Also, these findings hold out the prospect of VK suppletion as a treatment for PXE. As such, the findings summarized in this thesis have elaborated the clinical and molecular knowledge of PXE and related disorders, and have opened novel avenues for further fundamental and applied research in the field of ectopic mineralization. Above all, they have benefitted patients and their family though a more efficient molecular diagnosis, a more to-the- point follow-up and the prospect of a treatment for their burdensome disease.
    Full-text · Article · Jan 2009
  • [Show abstract] [Hide abstract]
    ABSTRACT: Similar to the experience of finding a lump upon physical examination of the breast, the detection of an intrascrotal mass is often a frightening experience for both the patient and his physician. Ultrasound is a nearly ideal modality for evaluation of the scrotum. This manuscript will review the sonographic assessment of the common pathologic and normal conditions that may present as a mass within the scrotum, including discussion of intratesticular and extratesticular etiologies.
    No preview · Article · Dec 2009 · Ultrasound quarterly
Show more