Patient Presentation
A 12-year-old male came to clinic for his health supervision visit. He was doing well in school, had recently started to play the trumpet and was active in baseball and basketball. He was looking forward to starting junior high school. He had not seen a physician for several years and in the past had seen other health care providers in the area, so no medical records were available other than immunization records that showed he was current. The past medical history was non-contributory.

The pertinent physical exam showed a happy male with normal vital signs and growth parameters in the 50-75%. His examination was normal except that no testis was palpable on the left side. The scrotum also looked very underdeveloped. He was Tanner I for public hair, testis and penis. The diagnosis of a healthy male with an undescended left testis was made. The mother was surprised and did not remember any health care provider mentioning any problems in the past. The boy just said that he thought everything was normal. The physician told the family that it was very important that he be evaluated and followed by an urologist. “It’s possible that everything was normal for several years and then the testis moved upward, or it is possible that it never moved into the scrotum as it should have. Either way there are risks for fertility and possibly cancer that need to be watched out for as he grows,” the pediatrician explained. “If it is okay with you, I want to get his medical records from when he was born and for the next few years afterward to see what was documented about his genitals. That is important for the urologist and how you might be treated,” she further explained.

Discussion
Cryptorchidism is the failure of one or both testes to descend from the abdomen into the scrotum.

Congenital undescended testis (UDT)is common in young infants (1-4% in term infants and 45% in preterm infants) in that the testes will be palpable but remain high, but most testes will descend by 3-6 months and by 9 months of age only 1% remain undescended. The scrotum often appears underdeveloped. Sometimes the testes cannot be identified and is intra-abdominal at birth. Intra-abdominal testes are less likely to migrate to the scrotum and therefore are more likely to remain undescended. Acquired undescended testis is thought to be caused by the spermatic cord not elongating at the same rate as the body (especially the pelvis). A common cause is a fibrous remnant of the processus vaginalis that does not elongate. The scrotum may be normal or underdeveloped. Retractile testes are testis that remain high in the scrotum and/or groin but can be brought down into the scrotum without difficulty.

Orchiopexy, where the testes is surgically placed into position within the scrotum, is recommended to be accomplished by around 1 year of age because of the increased risks of cosmetic problems, infertility and testicular malignancy.

Cosmetic problems are not uncommon. Boys and men who underwent orchiopexy as infants often will have a smaller testicle or for it to be aligned higher in the scrotum after puberty. Rates of testicular atrophy are about 3-4% and increase to ~14% with an intra-abdominal testis. If the atrophy is significant, a prosthesis may be an option.

Congenital cryptorchidism has a higher risk of infertility. Normal sperm count and motility remain relatively normal if orchiopexy is preformed in the first year of life. These decrease if treatment is after the first year. Patients with unilateral, acquired UDT may still have spontaneous descent by puberty (up to 50%) and therefore some people choose close monitoring. Bilateral acquired cryptorchidism seems to have a better fertility outcome if treated with orchiopexy at diagnosis.

Learning Point
Testicular cancer is one of the most common malignancies in young men peaking around age 30 years. Germ cell tumors are the most common type (95%). Cryptorchidism is associated with 5-10% of testicular cancers. Overall, “[f]or a boy with cryptorchidism, the relative risk of developing a subsequent testicular malignancy was 2.2 to 3.8 times higher than the background population….” However the younger the boy was at orchiopexy, the lower the risk. Odds ratios for boys at the time of surgery were: 0-9 years was 1.1, 10-14 years was 2.9, > 15 years was 3.5 and for adults with persistent cryptorchidism it was 14.4. Rates are lower for unilateral cryptorchidism (odds radio 2.9) than for bilateral disease (4.9).

Questions for Further Discussion
1. Name other risk factors for testicular cancer?
2. How is male infertility evaluated?
3. How is female infertility evaluated?

Related Cases

Disease: Cryptorchidism | Testicular Cancer | Testicular Disorders

Symptom/Presentation: Health Maintenance and Disease Prevention

Specialty: Nephrology / Urology

Age: School Ager

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com, the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.
Information prescriptions for patients can be found at MedlinePlus for these topics: Testicular Disorders and Testicular Cancer

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Thorup J, Cortes D. Long-Term Follow-Up after Treatment of Cryptorchidism. Eur J Pediatr Surg. 2016 Oct;26(5):427-431.

Moirano G, Zugna D, Grasso C, Mirabelli D, Lista P, Ciuffreda L, et.al. Postnatal risk factors for testicular cancer: The EPSAM case-control study.Int J Cancer. 2017 Nov 1;141(9):1803-1810.

Rohayem J, Luberto A, Nieschlag E, Zitzmann M, Kliesch S. Delayed treatment of undescended testes may promote hypogonadism and infertility. Endocrine. 2017 Mar;55(3):914-924.

Author
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa