Cryptorchidism is the most common congenital condition involving the genital system in boys. The condition is typified by a failure of the testes to descend into the scrotal sac. Thus, at birth, the infants are characterized by the absence of either one (unilateral) or both (bilateral) of the testes from the scrotum. Instead, the testis may be positioned abdominal, inguinal, prescrotal, or gliding (testicle located below the external ring). In most infants diagnosed with cryptorchidism at birth, the testes spontaneously descends into the scrotum by the age of 6 months to a year, although spontaneous descent after a year is very rare. In cases that persist, apart from the psychological complications of such a condition, other complications are lack of fertility, testicular torsion, inguinal hernias, and susceptibility to development of testicular cancer, especially seminomas. Causes and risk factors for this condition include maternal exposure to estrogen during the first trimester, maternal age less than 20-years and more than 35-years, preterm birth, low birth-weight, and twinning.
Almost 3% of infant boys are seen to have cryptorchidism, although by the age of 1-year, only 1% of them continue to be affected. Diagnosis is usually made on the basis of physical examination. The most effective way of managing the condition is by performing infant orchidectomy, a surgical procedure, wherein the testes is brought into the scrotum, and sutured to the scrotal tissue. Occasionally, hormone therapy with human chorionic gonadotropin (hCG) and/or gonadotropin regulating hormone (GnRH) may result in descent of the testes, especially when the testes is situated in the inguinal canal.
Studies indicate mutations in INSL3 gene can cause cryptorchidism. T222P mutation in LGR8 gene has also been known to show a possible association in patients with cryptorchidism.