A 24-Year-Old Man With Down Syndrome and Shortness of Breath

Dieu-Thu Nguyen-Khoa, MD; Mona Sabeti, MD; Anh H. Au, MD


September 30, 2014


The patient's chest radiograph showed bilateral lung masses of varying sizes, including multiple "cannonball" lesions (Figure 1).

The left lung had a laterally located 9 x 6 cm mass, in addition to a 7-cm mass in the left lung base; a 7.5-cm mass was seen in the right lung. After the patient's chest radiograph was reviewed, metastatic cancer was considered because of the nature of the lesions.

A more thorough physical examination was done, and the patient was found to have a firm, nontender mass in the left testicle. Ultrasonography of the testicles was performed and demonstrated a 4.4 x 4.8 x 2.6 cm heterogeneous lobulated mass in the left testicle, with areas of flow to some portions and lack of flow to other portions (Figures 2 and 3).

This mass was highly suggestive of testicular cancer. There was also extensive associated microlithiasis and a small hydrocele in the affected testicle. Further laboratory testing revealed elevated levels of serum tumor markers; the beta-human chorionic gonadotropin (hCG) level was 6992 mIU/mL (normal range, < 5 mIU/mL), and the alpha-fetoprotein (AFP) level was 1789 ng/mL (normal range, 0-20 ng/mL). A diagnosis of testicular cancer with lung metastases was established.

Testicular cancer is a rapidly progressive cancer that, despite being rare and accounting for only 1% of all types of cancer in men, is still the most common solid tumor in men aged 15-35 years. Testicular cancer must always be considered in any adolescent, young adult, or middle-aged man who presents with a testicular mass. Other risk factors for testicular cancer are family history, gonadal dysgenesis, Klinefelter syndrome, Down syndrome, or a history of cryptorchidism.

Orchiopexy does not prevent the occurrence of cancer, but it facilitates diagnosis by allowing the surgically descended testes to be palpated and assessed for masses. Patients who receive orchiopexy after 12 years of age have a higher relative risk for testicular cancer than those who undergo corrective surgery at an earlier age.[1] Men with a history of testicular cancer have an increased risk for cancer in the other testicle up to 25 years after diagnosis. Infertility may be linked with testicular cancer; most men have an abnormal semen analysis at the time of diagnosis.[2,3]

The most common presentation in patients with testicular cancer is a painless lump felt in the testicle by the man or his partner. Unilateral testicular enlargement can also be a sign of testicular cancer. The patient may have nonspecific back pain at initial presentation caused by retroperitoneal lymphadenopathy. If lung metastases have developed, the patient may present with dyspnea or hemoptysis. Other signs and symptoms, such as testicular redness, swelling, discomfort, and pain, can occur as well. Other testicular conditions, such as epididymitis, hematocele, and varicocele, have been noted to have a similar presentation as testicular cancer.[3]


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