Should Patients with Down Syndrome be Screened for Testicular Microlithiasis?

Abstract

Background Testicular microlithiasis (TM) is a rare condition characterized by asymptomatic calcification of seminiferous tubules and is considered as a precursor of testicular germ cell tumors. The prevalence of TM has been reported higher in patients with Down syndrome (DS) than general population. Our aim was to determine the prevalence of TM in our patients with DS.

Patients and Methods Male patients with DS confirmed by chromosomal analysis were prospectively evaluated using high resonance ultrasound. For every patient with DS, an age-matched healthy non-DS volunteer was recruited and the results were compared.

Results A total of 50 testes from 25 patients between the age of newborn and 19.3 years were studied. While nine patients with DS (36%) had TM, none of controls had TM. Mean testicular volumes (TVs) of patients with DS did not differ significantly from the control group. In DS group, patients with TM were significantly older than patients without TM (mean age was 8.44 years [range, 2.0–19.3 years] and 2.39 years [range, 0.1–12.1 years], respectively, p = 0.002). TM was found positively correlated with age (r = 0.568, p = 0.003). Cryptorchidism was found in five patients in DS group (three unilateral and two bilateral) and in two controls (one unilateral and one bilateral). Of the nine patients with TM, only one patient had cryptorchidism; thus, TM was not found to be related with cryptorchidism. All the nine patients with DS and TM had normal serum levels of α-fetoprotein and β-human chorionic gonadotropin.

Conclusion On the basis of the high prevalence found in our study, we suggest that all male patients with DS should be screened for TM in childhood.

Keywords

down syndrome - testicular microlithiasis - ultrasonography - testicular tumor

• References

• 1 Kim B, Winter III TC, Ryu JA. Testicular microlithiasis: clinical significance and review of the literature. Eur Radiol 2003; 13 (12) 2567-2576
• 2 Costabile RA. How worrisome is testicular microlithiasis?. Curr Opin Urol 2007; 17 (6) 419-423
• 3 Tan IB, Ang KK, Ching BC, Mohan C, Toh CK, Tan MH. Testicular microlithiasis predicts concurrent testicular germ cell tumors and intratubular germ cell neoplasia of unclassified type in adults: a meta-analysis and systematic review. Cancer 2010; 116 (19) 4520-4532
• 4 Patja K, Pukkala E, Sund R, Iivanainen M, Kaski M. Cancer incidence of persons with Down syndrome in Finland: a population-based study. Int J Cancer 2006; 118 (7) 1769-1772
• 5 Vachon L, Fareau GE, Wilson MG, Chan LS. Testicular microlithiasis in patients with Down syndrome. J Pediatr 2006; 149 (2) 233-236
• 6 Goede J, Weijerman ME, Broers CJ, de Winter JP, van der Voort-Doedens LM, Hack WW. Testicular volume and testicular microlithiasis in boys with Down syndrome. J Urol 2012; 187 (3) 1012-1017
• 7 Bennett HF, Middleton WD, Bullock AD, Teefey SA. Testicular microlithiasis: US follow-up. Radiology 2001; 218 (2) 359-363
• 8 Goede J, Hack WW, van der Voort-Doedens LM, Sijstermans K, Pierik FH. Prevalence of testicular microlithiasis in asymptomatic males 0 to 19 years old. J Urol 2009; 182 (4) 1516-1520
• 9 Silveri M, Bassani F, Colajacomo M, Orazi C, Adorisio O. Management and follow-up of pediatric asymptomatic testicular microlithiasis: are we doing it well?. Urol J 2011; 8 (4) 287-290
• 10 Husmann DA. Cryptorchidism and its relationship to testicular neoplasia and microlithiasis. Urology 2005; 66 (2) 424-426
• 11 Aizenstein RI, Hibbeln JF, Sagireddy B, Wilbur AC, O'Neil HK. Klinefelter's syndrome associated with testicular microlithiasis and mediastinal germ-cell neoplasm. J Clin Ultrasound 1997; 25 (9) 508-510
• 12 Aizenstein RI, DiDomenico D, Wilbur AC, O'Neil HK. Testicular microlithiasis: association with male infertility. J Clin Ultrasound 1998; 26 (4) 195-198
• 13 Peterson AC, Bauman JM, Light DE, McMann LP, Costabile RA. The prevalence of testicular microlithiasis in an asymptomatic population of men 18 to 35 years old. J Urol 2001; 166 (6) 2061-2064
• 14 Serter S, Gümüş B, Unlü M , et al. Prevalence of testicular microlithiasis in an asymptomatic population. Scand J Urol Nephrol 2006; 40 (3) 212-214
• 15 Furness III PD, Husmann DA, Brock III JW , et al. Multi-institutional study of testicular microlithiasis in childhood: a benign or premalignant condition?. J Urol 1998; 160 (3 Pt 2) 1151-1154 , discussion 1178
• 16 Dada R, Kumar R, Kucheria K. A 2-year-old baby with Downs syndrome, cryptorchidism and testicular tumour. Eur J Med Genet 2006; 49 (3) 265-268
• 17 Hsiang YH, Berkovitz GD, Bland GL, Migeon CJ, Warren AC. Gonadal function in patients with Down syndrome. Am J Med Genet 1987; 27 (2) 449-458