Patients are usually asymptomatic. The condition is usually first detected by an imaging study (X-ray, ultrasonography, CT or MRI). The appearance on ultrasonography consists of diffuse, small hyperechoic foci.
Risk factors for testicular microlithiasis:
(1) Down syndrome
(2) cryptorchidism or delayed testicular descent
(3) pulmonary alveolar microlithiasis
(4) presence of multiple lentigines
(5) Klinefelter or McCune-Albright syndrome
(6) Black or Hispanic race (about twice the rate in White and Asians)
It is important to distinguish a risk factor from a condition resulting in an increased chance testicular imaging (and therefore detection of the condition).
Adverse effects of microlithiasis:
(1) increased risk of a testicular germ cell tumor
(2) infertility and/or hypogonadism
A young patient with testicular microlithiasis should be monitored at least annually for development of a testicular tumor.