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
