The continuity of any species requires an efficient system for multiplication. It is not only survival of the fittest, but also survival of the most efficient reproducers.
21.1 Congenital Anomalies of the Male Genitalia
21.1.1 Cryptorchidism
Pathology: Fetal testes must descend from their intra-abdominal location into the scrotal sac before birth. One or both testes may stop at any point along this path, remaining hidden inside the abdomen or protruding out just slightly.
Presentation: Unilateral is not uncommon, especially in preterm males, but they usually descend by 6 months of age. Bilateral is usually due to an underlying genetic disorder.
Diagnosis: It is made by physical exam, where nonpalpable or partially descended testes and asymmetry can be detected. Ultrasound (US) can aid further in dx.
If persistent beyond 6 months of age, NSIM is orchiopexy, which should be done before 2 years of age.
Infants with other associated abnormalities or with bilateral cryptorchidism should be referred to a specialist.
Complications: Cryptorchidism increases the risk of subfertility, inguinal hernia (due to coexistence of persistent processus vaginalis), testicular torsion, and testicular cancer. Orchiopexy has been shown to reduce the risk of these complications, except testicular cancer.
21.1.2 Hypospadias or Epispadias
Definition: Embryological malformation leading to abnormally located opening of urethral meatus and shortened urethra.
21.2 Testicular Pathologies
21.2.1 Hydrocele
Definition: Fluid collection in the tunica vaginalis.
Etiology: In pediatric population, MCC is failure of processus vaginalis to close which leads to communicating hydrocele. In adults, it is mostly idiopathic. It may be caused by parasitic infection (filariasis) but is rare in the United States.
Presentation: Gradually enlarging, painless swelling of scrotum.
Diagnosis: Trans-illuminates with a flashlight. US can confirm the diagnosis.
Communicating hydrocele in infants generally resolves by 12 months. If persistent beyond 12 months of age or if diagnosed later, NSIM is elective surgical repair. Unrepaired communicating hydrocele increases the risk of incarcerated inguinal hernia.
For idiopathic hydrocele, do surgical repair only if symptomatic. Simple aspiration does not work, as it frequently recurs.
21.2.2 Testicular Torsion
Pathophysiology: Twisting of the spermatic cord results in loss of blood flow and acute ischemia.
Etiology: Majority of testicular torsion occurs due to congenital deformity (malformed processus vaginalis fails to attach the testicle to the scrotal surface leaving it free to rotate). Presentation: Acute severe, unilateral testicular pain with nausea/vomiting.
Physical exam: Exam is often difficult due to pain, but typically reveals unilateral tender swelling of scrotum, absent cremasteric reflex and high-riding testis.
At times torsion can occur prenatally (before birth), and it might present within 24 hours of birth with painless firm enlarged testes and discolored hemiscrotum.
If diagnosis is certain: emergent surgical detorsion and orchiopexy.
If diagnosis is not clear, immediate diagnostic testing such as US with Doppler color flow needs to be done.
21.2.3 Varicocele
Pathophysiology: Dilation of the pampiniform plexus, caused by various anatomical factors that prevent proper drainage of the plexus.
Similar to leg varicosities, the idiopathic cases develop usually due to venous valve incompetence. It is more commonly seen on the left side, since the left gonadal vein is longer as it empties into the left renal vein. It is also a smaller-caliber vessel.
Secondary causes: Obstruction due to renal cell carcinoma, IVC (inferior vena cava) thrombus, or any abdominal mass in the pathway of the vein.
Presentation: Most often asymptomatic but can cause some discomfort, especially in hot weather. It can present with infertility (MCC of correctable infertility in males).
Diagnosis: When palpating a varicocele, it might feel like a “bag of worms.” Valsalva maneuver, by increasing abdominal pressure, will increase the size. A change in position from standing to lying flat will facilitate draining and decrease the size. Severe case may have visible swelling. Obstructive pathology needs to be ruled out with computed tomography (CT) scan in patients with varicocele that is acute in onset, fails to drain in supine position, or is right-sided.
Management: Surgical correction is done in patients with varicocele associated with low testicular volume or infertility. In older patients who no longer desire fertility and with minor symptoms can be managed conservatively with NSAIDs (nonsteroidal anti-inflammatory drugs) and scrotal support.
21.3 Testicular Cancer
Risk factor: Cryptorchidism, HIV, family history, etc.
Presentation: Unilateral testicular swelling. It can also present with symptoms due to metastatic disease such as hemoptysis with chest X-ray revealing multiple nodules.
Physical exam: Unilateral, hard, firm, nodular or mass-like testicular, swelling, which is usually painless and does not transilluminate or change with position.
NSIDx is testicular US, which can reveal hypoechoic mass. A homogenous, cystic, fluid-filled structure is likely not malignant.
After US, NSIM is radical inguinal orchiectomy to obtain tissue diagnosis. Do not choose needle biopsy, as it may cause tract seeding. CT or magnetic resonance imaging (MRI) scan of chest, abdomen, and pelvis for staging and serology for tumor markers needs to be done. Semen cryopreservation should be offered.
Further management depends upon histological subtype. Testicular germ-cell tumors (the MC type of testicular cancer) are subclassified into two major categories:
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