COMPLICATIONS OF CRYPTORCHIDISM: WHAT YOU NEED TO KNOW

Cryptorchidism is one of the most common congenital anomalies affecting the male genitourinary system. While prevalent, particularly in premature infants, it requires timely diagnosis and appropriate management to mitigate significant long-term health risks.

Defining Cryptorchidism

The term “cryptorchidism” originates from the Greek words kryptos (hidden) and orchis (testis), literally meaning “hidden testis.” Clinically, cryptorchidism is defined as the absence of one or both testes from the scrotum. It represents a failure of the normal process of testicular descent, which occurs during fetal development.

Normally, the testes develop within the abdomen of a male fetus and gradually descend through the inguinal canal into their final position in the scrotum during the last trimester of pregnancy (typically between 28 and 40 weeks of gestation). When this process is halted or disrupted, the testis remains at some point along its path of descent.

Cryptorchidism can be classified based on several factors:

• Laterality:
  • Unilateral Cryptorchidism: Affects only one testis. This is the most common form, accounting for approximately 80-90% of cases.
  • Bilateral Cryptorchidism: Affects both testes. This is less common but carries a higher risk of future complications, particularly infertility.
• Palpability:
  • Palpable (80% of cases): The undescended testis can be located by physical examination. It is typically found in the inguinal canal, just above the scrotum, or in the superficial inguinal pouch.
  • Non-palpable (20% of cases): The testis cannot be located by physical examination. This could be because it is located within the abdomen (intra-abdominal), is very small and underdeveloped (atrophic), or is absent altogether (anorchia).
• Congenital vs. Acquired:
  • Congenital Cryptorchidism: The testis is undescended at birth. Many of these will descend spontaneously within the first 3-6 months of life.
  • Acquired Cryptorchidism (Ascending Testis): A testis that was previously noted in the scrotum is later found to be in an undescended position. This can occur as the child grows and the spermatic cord does not elongate proportionally.

It is crucial to differentiate true cryptorchidism from a retractile testis. A retractile testis is a normally descended testis that is pulled up out of the scrotum by an overactive cremasteric muscle reflex. It can be easily guided back into a stable position within the scrotum during a physical exam and does not carry the same risks as a truly undescended testis.

The Etiology (Causes and Risk Factors) of Cryptorchidism

The etiology of cryptorchidism is complex and multifactorial, involving a combination of hormonal, anatomical, genetic, and environmental factors. A single definitive cause is often not identified.

• Hormonal Factors: The descent of the testes is a hormonally-driven process. The hypothalamic-pituitary-gonadal (HPG) axis plays a critical role.
  • Androgens (e.g., Testosterone): These hormones are essential for the transabdominal phase of descent and the development of the gubernaculum, a ligamentous cord that guides the testis into the scrotum.
  • Insulin-like Factor 3 (INSL3): Produced by the Leydig cells of the fetal testis, INSL3 is crucial for the thickening and development of the gubernaculum, which anchors the testis and facilitates its descent. Deficiencies or insensitivity to these hormones can disrupt the process.
• Anatomical and Mechanical Factors: Physical impediments can prevent the testis from completing its journey.
  • Gubernacular Abnormalities: An underdeveloped or abnormally attached gubernaculum may fail to guide the testis correctly.
  • Intrinsic Testicular Defect: The undescended testis itself may be inherently abnormal (dysgenetic), leading to poor hormonal production and a failure to descend.
  • Increased Intra-abdominal Pressure: Normal intra-abdominal pressure helps push the testes downward. Conditions that alter this pressure could interfere with descent.
• Genetic Predisposition: A family history of cryptorchidism increases the risk, suggesting a genetic component. Furthermore, cryptorchidism is a common feature of numerous genetic syndromes, including Klinefelter syndrome, Prader-Willi syndrome, and disorders of sex development (DSD).
• Maternal and Environmental Risk Factors: Several prenatal factors have been associated with an increased incidence of cryptorchidism:
  • Prematurity and Low Birth Weight: This is the most significant risk factor. The later stages of testicular descent occur in the final weeks of gestation, so infants born prematurely have not had sufficient time for the process to complete.
  • Maternal Exposure to Endocrine-Disrupting Chemicals: Exposure to substances like pesticides, phthalates, and bisphenol A (BPA) during pregnancy may interfere with the fetal hormonal environment.
  • Maternal Health: Conditions like gestational diabetes, maternal obesity, and smoking during pregnancy have been linked to a higher risk.

Complications and Long-Term Implications

The scrotum’s primary function is to maintain testicular temperature approximately 2-3°C cooler than core body temperature, which is optimal for sperm production (spermatogenesis). When a testis remains in the warmer intra-abdominal or inguinal environment, it is exposed to cellular stress, leading to several serious complications if left untreated.

1. Impaired Spermatogenesis and Infertility: This is the most significant and well-documented complication. Prolonged exposure to higher body temperatures leads to the progressive deterioration of germ cells—the precursors to sperm. The risk of subfertility or infertility is substantially higher in men with a history of bilateral cryptorchidism and is also increased in unilateral cases, albeit to a lesser extent. Early surgical correction is critical to preserve as much fertility potential as possible.
2. Increased Risk of Testicular Cancer: Men with a history of cryptorchidism have a 3 to 5 times greater risk of developing testicular germ cell tumors compared to the general population. The malignancy is thought to arise from the underlying cellular abnormalities (dysgenesis) in the undescended testis itself. While surgical correction (orchidopexy) does not eliminate this risk, it significantly improves surveillance by moving the testis to an easily palpable location, allowing for regular and effective testicular self-examination.
3. Testicular Torsion: An undescended testis is not as securely anchored as a scrotal testis, making it more prone to twisting on its spermatic cord. Testicular torsion is a urological emergency that cuts off blood supply to the testis, leading to severe pain and potential testicular death if not treated immediately.
4. Inguinal Hernia: The pathway the testis takes during its descent (the processus vaginalis) is supposed to close after birth. In many cases of cryptorchidism, this pathway remains open (patent), creating a direct communication between the abdomen and the scrotum. This allows abdominal contents, such as a loop of intestine, to protrude through, resulting in a clinical inguinal hernia.

Management and Treatment of Cryptorchidism

The management of cryptorchidism follows a well-established protocol focused on early intervention.

• Initial Observation (“Watchful Waiting”): Since many testes will descend spontaneously after birth, a period of observation is the standard initial approach. If the testis has not descended by 6 months of age, spontaneous descent is highly unlikely, and intervention is warranted.
• Surgical Intervention (Orchidopexy): Surgery is the gold standard and most effective treatment for cryptorchidism.
  • Timing: The current international consensus recommends performing an orchidopexy between 6 and 18 months of age, with many surgeons preferring to operate between 6 and 12 months. This early timing is crucial to maximize the preservation of germ cells and fertility potential.
  • Procedure: An orchidopexy involves making a small incision in the groin to locate and free the testis and its spermatic cord from any tethering tissues. A second small incision is made in the scrotum to create a pouch, into which the testis is brought down and secured (sutured) in place. Any associated inguinal hernia is repaired at the same time.
  • Laparoscopy: For a non-palpable testis, a minimally invasive laparoscopic procedure is often performed. This allows the surgeon to look inside the abdomen to determine if a testis is present, atrophic, or absent. If a viable testis is found, it can often be brought down into the scrotum during the same procedure, sometimes in a two-stage operation (Fowler-Stephens procedure) if the spermatic vessels are too short.
• Hormonal Therapy: The use of hormonal injections, such as human chorionic gonadotropin (hCG) or gonadotropin-releasing hormone (GnRH), has been explored in the past. However, success rates are low (less than 20%), outcomes are often temporary, and potential side effects exist. Consequently, hormonal therapy is no longer recommended as a primary treatment by major urological associations in Europe and North America and has been largely replaced by the more effective and definitive surgical approach.
• Long-Term Follow-up: After successful orchidopexy, long-term follow-up is still necessary. Patients and their parents should be educated on the lifelong increased risk of testicular cancer and taught the importance of monthly testicular self-examinations starting in adolescence.

Conclusion

Cryptorchidism is a common pediatric condition with a clear pathway for management. Through a precise definition, an understanding of its multifactorial etiology, and an awareness of its serious potential complications, the importance of timely intervention becomes evident. Orchidopexy, performed at an early age, remains the cornerstone of treatment, effectively mitigating the risks of infertility, testicular torsion, and improving the ability to screen for testicular cancer, thereby ensuring better long-term health outcomes for the patient.

References:

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