Testicular microlithiasis is an infrequent but well recognized condition, which is usually incidentally identified on testicular ultrasound scan. Interest in
testicular microlithiasis has increased over the past few years, owing to an observed association with
testicular germ cell tumor (TGCT) and intratubular germ cell
neoplasia of unclassified type (ITGCNU). This association has added to evidence that
testicular microlithiasis is a feature of the testicular dysgenesis syndrome (
TDS), which is postulated to underpin disorders of male reproduction such as
subfertility, testicular
atrophy,
cryptorchidism, TGCT and other abnormalities of sexual development. Although the genetic and environmental components of
TDS remain unclear, studies of the molecular basis of TGCT support a genetic component for
testicular microlithiasis and have identified multiple genes that are associated with TGCT. These advances in the
biological understanding of
testicular microlithiasis and TGCT have not, however, resolved key clinical dilemmas in the management of patients with these diseases. The role of
testicular microlithiasis in the clinical consideration of testicular biopsy is discussed in the context of the apparently healthy individual, the individual with TGCT and the individual with
TDS.