Epidemiology and pathogenesis of cryptorchidism

Prospective clinical studies have shown that the prevalence of cryptorchidism among boys with birth weight > or =2500 g has increased in UK from 2.7 to 4.1% between the 1950s and the 1980s and in Denmark from 1.8 to 8.4% between the 1950s and the 1990s. In similar studies performed in different countries during the last two decades the figures have varied from 2.1 to 8.4%. Due to spontaneous descent of the testes lower figures, i.e. between 0.9 and 1.8% have been described at 3 months. Acquired cryptorchidism contributes to the increase in the rate of cryptorchidism in school-aged children. Testicular descent occurs in two phases. During the first phase, before midgestation, testis remains anchored to the inguinal area by insulin like hormone 3 (INSL3)-driven development of the gubernaculum. The second inguinoscrotal phase is dependent on testicular androgens and it is usually completed by the time of birth. Mutations of specific genes have rarely been reported in cryptorchidism. However, several risk factors for cryptorchidism, such as preterm birth and low birth weight, have been described. Environmental factors may also have a role in the etiology of cryptorchidism. Future studies on the gene-environment interaction will give new insights to the pathogenesis of cryptorchidism.