Last updated: 02/17/2009

Cryptorchidism

The diagnosis of cryptorchidism is usually made when a pediatrician examines the newborn baby, although the condition can occur at any time before the boy reaches puberty. The first stage in diagnosis is an external physical...

examination of the child's genitals. If either testicle does not appear to be in the scrotum, the doctor will palpate, or touch, the groin area and abdomen to determine whether a testicle can be felt in any of those locations. If the testicle can be felt, the doctor will decide on the basis of its location whether it is an undescended testicle, a so-called ectopic testicle, or a retractile testicle. An ectopic testicle is one that has developed in a location outside the normal path of development in the inguinal canal. Ectopic testicles are most often discovered along the inner part of the thigh near the groin, at the base of the penis, or below the scrotum in the perineum (the area between the scrotum and the rectum). A retractile testicle is one that is readily pulled back out of the scrotum by an overly sensitive reflex called the cremasteric reflex; it is not a genuinely undescended testicle. It is important for the doctor to distinguish a retractile testicle from genuine cryptorchidism because retractile testicles do not need surgical treatment. At this point in the diagnostic workup, a general pediatrician will often consult a specialist in pediatric urology.

In about 20% of male infants with cryptorchidism, the missing testicle cannot be felt at all. It is known as a non-palpable testicle. The child may be given a hormone challenge test to help determine whether the testicle is located in the abdomen or whether it has failed to develop fully. If the testosterone level in the blood rises in response to the test, the doctor knows that there is a testis present somewhere in the child's body. In other cases, the testis has atrophied, or shriveled up due to an inadequate blood supply before birth. If neither testicle can be felt, the child should be examined further for evidence of inter-sexuality. The doctor may order an ultrasound to check for the presence of a uterus, particularly if the child's external genitals are ambiguous in appearance.

Surgery is the next step in searching for a non-palpable testicle. The surgeon may perform either an open inguinal procedure or a laparoscopic approach. In an open inguinal exploration, the surgeon makes an incision in the child's groin; if nothing is found, the incision may be extended into the lower abdomen. In a laparoscopic approach, the surgeon uses an instrument that looks like a small telescope with a light attached in order to see inside the groin or the abdominal cavity through a much smaller incision. If the surgeon is able to find the testicle, he or she may then proceed directly to perform an orchiopexy.

Testicular torsion

Testicular torsion is usually diagnosed in the emergency room. The doctor will usually suspect testicular torsion on the basis of sudden onset of severe pain on one side of the scrotum; it is unusual for pain to develop gradually in this disorder. The patient's history often indicates recent hard physical work, vigorous exercise, or trauma to the genital area; however, testicular torsion can also occur without any apparent reason. Other symptoms may include swelling of the scrotum, blood in the semen, nausea and vomiting, pain in the abdomen, and fever. A few patients feel the need to urinate frequently. When the doctor examines the patient's scrotum, the affected testicle is usually enlarged and is painful when the doctor touches it. It usually lies higher in the scrotum than the unaffected testicle and may be lying in a horizontal position.

Since testicular torsion is a medical emergency, most doctors will not risk permanent damage to the testicle by taking the time to perform imaging studies. If the diagnosis is unclear, however, the doctor may order a radionuclide scan or a color Doppler ultrasound to determine whether the blood flow to the testicle has been cut off. The patient will be given a mild pain medication and referred to a urologist for surgery as soon as possible.