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Cryptorchidism: Causes, Symptoms and Treatment

Cryptorchidism is a condition in which one or both testes fail to descend into the scrotum. It is one of the most common congenital anomalies in male newborns.

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Things worth knowing about "Cryptorchidism"

Cryptorchidism is a condition in which one or both testes fail to descend into the scrotum. It is one of the most common congenital anomalies in male newborns.

What is Cryptorchidism?

Cryptorchidism (from Greek kryptos = hidden and orchis = testis) is a condition in which one or both testes do not descend into the scrotum during fetal development. Normally, the testes migrate from the abdominal cavity through the inguinal canal into the scrotum before birth. When this process is incomplete or absent, the condition is called cryptorchidism. It is one of the most frequently occurring congenital malformations of the male urogenital tract.

Prevalence

Cryptorchidism affects approximately 2–4% of full-term male newborns. In premature infants, the rate is significantly higher, reaching up to 30%. In many cases, the testis descends spontaneously within the first few months of life, reducing the overall prevalence to approximately 1% by the end of the first year.

Causes

The exact causes of cryptorchidism are not fully understood. Several contributing factors have been identified:

Hormonal imbalances: Deficiencies in gonadotropins (LH, FSH) or testosterone can disrupt the normal descent of the testis.
Genetic factors: Mutations in genes involved in hormonal regulation or urogenital development may play a role.
Mechanical obstructions: Anatomical abnormalities in the inguinal canal or scrotum can prevent proper descent.
Prematurity: Since testicular descent typically occurs during the last trimester of pregnancy, preterm infants are at higher risk.
Environmental factors: Exposure to endocrine-disrupting chemicals during pregnancy is being investigated as a potential contributing factor.

Symptoms and Forms

The primary sign of cryptorchidism is the absence of one or both testes in the scrotum. Several subtypes are recognized:

True cryptorchidism: The testis is located in the abdominal cavity or inguinal canal and cannot be manually brought into the scrotum.
Gliding testis: The testis can be guided into the scrotum but returns to its original position when released.
Retractile testis: The testis is normally located in the scrotum but is temporarily drawn upward by an overactive cremaster reflex. This usually does not require treatment.
Ectopic testis: The testis is located outside its normal path of descent.

Cryptorchidism is generally painless but increases the risk of long-term complications if left untreated.

Diagnosis

Diagnosis is primarily made through physical examination, during which the physician palpates the scrotum and inguinal region. Additional diagnostic tools include:

Ultrasound: Used to locate non-palpable testes in the inguinal canal or abdominal cavity.
MRI (Magnetic Resonance Imaging): Useful for precise localization when the testis cannot be found by ultrasound.
Laparoscopy: A minimally invasive surgical procedure used for both diagnosis and treatment.
Hormonal testing: Measurement of testosterone and gonadotropin levels to assess testicular function.

Potential Complications

If left untreated, cryptorchidism can lead to the following complications:

Impaired fertility: The elevated temperature in the abdominal cavity damages sperm production over time.
Increased risk of testicular cancer: The risk of developing testicular cancer is two to eight times higher in men with a history of cryptorchidism.
Testicular torsion: Twisting of the spermatic cord, which represents a surgical emergency.
Inguinal hernia: A patent processus vaginalis, often present alongside cryptorchidism, can lead to an inguinal hernia.
Psychological impact: The altered appearance of the scrotum may cause psychological distress in older children.

Treatment

Early treatment is strongly recommended, ideally between 6 and 18 months of age. Treatment options include:

Hormonal Therapy

In selected cases, treatment with human chorionic gonadotropin (hCG) or GnRH (gonadotropin-releasing hormone) may be attempted to stimulate hormonal descent of the testis. However, success rates are limited, ranging from approximately 15 to 20%.

Surgical Treatment (Orchidopexy)

Orchidopexy is the gold standard treatment for cryptorchidism. During this procedure, the undescended testis is surgically repositioned and secured within the scrotum. The operation is typically performed laparoscopically or via open surgery and is considered safe and effective. Early surgical correction improves the prognosis for fertility and reduces the long-term risk of malignancy.

Prognosis

With timely treatment, the overall prognosis is favorable. Fertility can generally be preserved in cases of unilateral cryptorchidism. Bilateral cases carry a greater risk of impaired fertility. Regular follow-up examinations are important for the early detection of long-term complications such as testicular cancer.

References

Radmayr C. et al. - EAU Guidelines on Paediatric Urology. European Association of Urology, 2023.
Hutson J.M. et al. - Cryptorchidism. Seminars in Pediatric Surgery, 2010; 19(3): 215–224.
Kolon T.F. et al. - Evaluation and Treatment of Cryptorchidism: AUA Guideline. Journal of Urology, 2014; 192(2): 337–345.

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