Cryptorchidism refers to when a child is born with one or both testicles not present in the scrotum.
When we see a child with an undescended testicle, the ultimate diagnosis can be classified according to several different categories:
Testicular retraction
This is the most common factor resulting in the inaccurate diagnosis of an undescended testicle.
It is common 5-6 year old boys and is due to a hyperactive cremaster muscle reflex. This is basically a variation of normal. In children from 1 year to 11 years of age, 80% of fully descended testes can withdraw from scrotum and leave an empty scrotum behind due to cremaster reflex. If a testicle can be milked down to the bottom of the scrotum, it is considered a retractile testis, and no further treatment is needed. This phenomena usually disappears by puberty.
Cannilicular testis
The testicle is located above its natural position in the scrotum, but still outside the abdominal cavity. Tension from the external musculature of the body wall prevents normal descent into the scrotum.
Intra-abdominal testes
The testicle is located inside the abdominal cavity residing in a position along its pathway of natural descent. In such a position, it is not amenable to future examination by a physician, and it is at risk of becoming cancerous.
Ectopic testicle
The testicle may be found in regions not in the usual pathway of descent into the scrotum. Five major sites of ectopia are perineum, femoral canal, superficial inguinal pouch, suprapubic area, and contralateral scrotal pouch. The etiology is believed to be misdirected attachment to the scrotum.
Absent testicle
Such a phenomena of absent testicle can be bilateral (affecting both sides). It is believed to be associated with in utero torsion, vascular insult, or agenesis.
Cryptorchidism - Evaluation
X-ray studies
Generally radiologic imaging is not reliable. Ultrasound can help identify a testicle located in the inguinal canal, but is of limited use for intra-abdominal testes. MRI and CT scan can be useful for intra-abdominal testes, but they are often difficult to use on small children and have a high rate of false negative results.
Cryptorchidism - Treatment Options
Bilateral undescended testes
First, intersex (females with adrenal hyperplasia) should be ruled out. If the boy is less than nine years old and he has bilateral undescended testes, hormonal work-up is needed. This work-up may lead to a diagnosis of bilateral anorchia which means the testes never formed on either side. If the hormonal work-up is normal, an HCG stimulation test is applied and testosterone is subsequently measured. Patients with bilateral anorchia will not make testosterone in response to HCG.Retractile testis
This is a normal variant. This phenomenon usually disappears by 13 years of age.Reasons to treat the undescended testicle
Most pediatric urologists recommend orchiopexy by 1 to 1.5 years of age or earlier. We recommend treatment of the undescended testicle before one year of age. There is evidence that early damage to the germ cells that produce sperm begins at this age. Other reasons to treat are psychological reasons and placement of testicle in position more amenable to physical examination to pick up testis cancer. The most effective treatment is surgery, which can be performed as an outpatient.Pharmacotherapy has the advantages of avoiding anesthesia and being minimally invasive. HCG (human chorionic gonadotopin) is the drug of choice. HCG is thought to stimulate Leydig cells of testicle to produce male hormones. The precise mechanism of action is unknown. Injections of HCG are given several times per week over several weeks. This can produce descent in some children. However, the success rates have been reported to be as low as 10%. Unfortunately the results of hormone treatment have diminished success in children less than two years of age. Usually a maximum 5-week course is undertaken. Patients failing hormonal therapy should undergo surgical treatment.Surgical Therapy
Surgery is immediately performed on ectopic testes, cryptorchids with coexisting hernias and boys at pubertal age. When a testis is felt in the groin area, we usually explore the area through a small incision made in the skin above the scrotum called the inguinal region. Most undescended testes are associated with a hernia that must be repaired. After this is done, the testis is brought down into the scrotum and anchored in a space created in the scrotum (orchiopexy). Both incisions (in the inguinal region and scrotum) are closed with absorbable sutures.Concealed Laparoscopic Orchiopexy
Laparoscopy can be used to localize nonpalpable, undescended testes. The laparoscopy is performed first to find out if the testicle is located in the abdomen or if it is congenitally absent. If the testis is low in the abdomen, an orchidopexy is performed laparoscopically. A laparoscope is inserted through a small umbilical opening to locate the non-palpable testis. If the testis is healthy, a second instrument is placed through a small opening in the scrotum to move the testicle into its natural position. Sometimes the testicle is located too high in the abdominal cavity to reach in a one-step operation. In this setting, the testicle will be freed of its previous blood supply and placed in a location such that it can be brought down with a second operation. The second stage is performed in 6 months.Follow-up
Long-term issues include infertility and tumorigenesis. After the initial post-operative visits, children should be seen 1 year after surgery to note the location and size of the testes. At puberty, boys should be taught how to perform monthly testicular self-examinations. The threshold for future ultrasound examinations is based on the type of tumor and physical exams. Once the boys reach adulthood, issues regarding fertility must be further explored with a urologist.