Cryptorchidism
Cryptorchidism, also known as undescended testicles, is a condition where one or both testes fail to descend into the scrotum before birth. This condition is relatively common, affecting approximately 30% of premature and 3% of full-term male infants, although most testes descend during the first year of life. Risk factors include low birth weight, premature birth, and maternal alcohol consumption during pregnancy, which has been linked to an increased incidence of cryptorchidism. Individuals with this condition have a significantly higher risk—three to four times greater—of developing testicular cancer later in life, particularly in their 30s to 50s.
Diagnosis typically occurs shortly after birth through a routine physical examination, with confirmation done via manual examination of the scrotum. Treatment often involves a surgical procedure called orchiopexy, which is performed in infancy to position the undescended testis correctly. Hormonal therapy may be considered in some cases, but orchiopexy is favored due to its high success rate and its role in mitigating cancer risk. While no preventive measures exist for cryptorchidism, regular screenings for testicular health are advised for those who experienced the condition, particularly if there is a family history of testicular cancer.
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Subject Terms
Cryptorchidism
ALSO KNOWN AS: Undescended testicles, hidden testis, obscure testis, maldescended testis
RELATED CONDITIONS: Reduced fertility, testicular cancer
DEFINITION: Cryptorchidism refers to a condition in which one or both testes are absent from the scrotum, having failed to descend into the scrotum before birth. It has been associated with development of testicular cancer later in life.
Risk factors: There is a strong link between low birth weight and cryptorchidism. Additionally, premature infants can be born before the descent of the testes takes place. Studies have shown that regular alcohol consumption during pregnancy is associated with a threefold increase in this abnormality. Although, a study released in 2020 showed no impact on male genital abnormalities if alcohol consumption was low to moderate. Those with cryptorchidism have a three to four times greater risk of developing testicular cancer, most often in the third through fifth decades of life.
Etiology and the disease process: The testes remain high in the abdomen until the seventh month of gestation, when specific hormones initiate the movement of the testes from the abdomen into the two sides of the scrotum. The movement, controlled by hormones, occurs in two phases. The first phase involves movement across the abdomen to the entrance of the inguinal canal, and the second phase involves movement of the testes through the inguinal canal into the scrotum.
Incidence: About 30 percent of premature and 3 percent of full-term infant boys are born with at least one undescended testis, making cryptorchidism the most common congenital disability of male genitalia. However, most testes descend by the first year of life, making the true incidence of cryptorchidism around 1 percent overall.
Symptoms: A manual exam of the scrotum determines if one or both testes are not present. For associated testicular cancer, a painless testicular mass is the most common symptom; a few young men may also experience diffuse testicular pain or swelling.
Screening and diagnosis: Screening for cryptorchidism takes place immediately after birth as part of a routine physical exam. Diagnosis is generally confirmed by a manual exam, resulting in the determination of only one testicle (or none) in the scrotal sac.
Treatment and therapy: A surgery known as orchiopexy is primarily performed in infancy for boys who have a testis still within the inguinal canal. When the undescended testis is in the inguinal canal, hormonal therapy is sometimes attempted and is occasionally successful. The most commonly used hormone therapies are human chorionic gonadotropin and gonadotropin-releasing hormone. A series of injections (ten injections over five weeks is common) is given, and the status of the testis or testes is reassessed at the end. The most common argument for orchiopexy, as opposed to hormone treatment, is to lower the risk of developing testicular cancer. For men with only one undescended testis, that risk is higher in the descended testis as well. Further, orchiopexy has a near 100 percent success rate.
Prognosis, prevention, and outcomes: The prognosis for correction of cryptorchidism is excellent. There are no preventive measures for this disease, as it usually occurs during fetal development.
Men who experienced cryptorchidism as infants, particularly if there is a family history of testicular cancer, have a three to four times increased risk of developing testicular cancer and should be regularly screened starting at puberty. Boys typically are taught how to examine the testes and advised to report lumps or other abnormal characteristics. Cancers (most commonly seminomas) caught early in this fashion are treatable. Semen and blood tests may begin in the late teenage years, and biopsy of the testes may be recommended in adults.
Bibliography
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