Cryptorchidism, commonly known as undescended testis, is a condition typically diagnosed and managed during infancy or early childhood.

However, in rare cases, it can persist into adulthood either due to missed diagnosis or failed treatment. Adult cryptorchidism poses unique clinical challenges, including an increased risk of infertility, testicular malignancy, and hormonal imbalances. Unlike in pediatric cases, the management of undescended testes in adults requires a more cautious approach, often balancing the risks of surgery with potential long-term complications.

Prevalence of undescended testes in adults

Cryptorchidism is one of the most common congenital anomalies in male infants, with a prevalence of about 1–4% in full-term newborns and up to 30% in preterm infants. However, the prevalence in adults is significantly lower, primarily because most cases are corrected in early childhood through orchiopexy.

In adults, true cryptorchidism is rare, with prevalence estimates ranging from:

• 0.1% to 0.8% in the general adult male population.
• Approximately 1 in 500 to 1,000 adult males may present with undiagnosed or untreated cryptorchidism.

Clinical significance of undescended testes in adults

Cryptorchidism in adults, though uncommon, carries several important clinical implications. When left untreated or undiagnosed during childhood, undescended testes can lead to a range of complications, making adult cryptorchidism a condition that requires careful evaluation and management.

1. Increased Risk of Testicular Cancer:

• One of the most serious consequences of undescended testes is a significantly elevated risk of testicular germ cell tumors, particularly seminomas.
• The risk of malignancy is estimated to be 4 to 10 times higher in undescended testes compared to normally descended ones.
• The risk is even greater when the testis is intra-abdominal and when orchiopexy is not performed before puberty.

2. Infertility and Subfertility:

• Undescended testes are associated with impaired spermatogenesis due to the higher intra-abdominal or inguinal temperatures, which are not optimal for sperm production.
• Bilateral cryptorchidism can result in significant infertility, while unilateral cases may still affect sperm quality.
• Early surgical correction (before age 1–2) improves fertility outcomes, but in adults, fertility is often already compromised.

3. Hormonal Dysfunction:

• Long-standing cryptorchidism can impair Leydig cell function, leading to reduced testosterone levels, which may contribute to symptoms like low libido, fatigue, or gynecomastia.
• Some patients may require endocrine evaluation and testosterone replacement therapy.

4. Risk of Testicular Torsion:

• Undescended testes are at increased risk for torsion, which can present as acute abdominal or groin pain and may be misdiagnosed.
• This condition is a surgical emergency and can lead to testicular loss if not promptly treated.

5. Psychological and Cosmetic Concerns:

• The absence of a testis in the scrotum may cause body image issues, low self-esteem, and psychological distress, particularly in younger adults or those with bilateral involvement.

6. Challenges in Diagnosis and Surveillance:

• In adults, especially those with intra-abdominal testes, physical examination may be inconclusive, necessitating imaging (ultrasound, CT, or MRI).
• Undescended testes are harder to palpate or monitor, making cancer screening and self-examination more difficult.

7. Surgical and Management Considerations:

• In adult patients, orchiectomy (removal of the undescended testis) is often recommended due to cancer risk and poor fertility prognosis.
• In selected cases (e.g., young men with potential fertility and hormone concerns), orchiopexy may be considered, though benefits are limited compared to early childhood.

Symptoms

In adults, undescended testes may be asymptomatic or present with non-specific signs, making diagnosis sometimes challenging. However, certain symptoms and clinical features may point toward the condition, especially in cases that were not corrected in childhood.

1. Empty Scrotum:

• The most common finding is the absence of one or both testes in the scrotal sac.
• Often discovered during a routine physical exam or fertility evaluation.

2. Groin or Abdominal Mass:

• Some men may notice a firm, painless mass in the groin or lower abdomen, which could represent an undescended or intra-abdominal testis.
• In rare cases, this mass may become painful due to torsion or malignancy.

3. Infertility or Difficulty Conceiving:

• Many adult men with undescended testes are evaluated during infertility workups.
• Especially relevant in cases of bilateral cryptorchidism, though even unilateral cases can reduce sperm count and quality.

4. Hormonal Symptoms (Hypogonadism):

• If both testes are affected or dysfunctional, symptoms may include:
  • Low libido
  • Fatigue
  • Erectile dysfunction
  • Reduced muscle mass or body hair
  • Gynecomastia (breast enlargement)

5. Pain or Discomfort:

• Rarely, men may experience intermittent groin or abdominal pain, especially if there’s:
  • Testicular torsion
  • Trauma to an ectopic testis
  • Hernia associated with the undescended testis

6. Testicular Cancer Signs:

• If malignancy develops in the undescended testis, symptoms may include:
  • A painless mass in the abdomen or groin
  • Weight loss, fatigue
  • Back pain or abdominal pain (if cancer has spread)

7. Psychological and Cosmetic Concerns:

• Some men may experience embarrassment, reduced self-esteem, or body image issues, especially in cases of visibly absent testes or asymmetry.

Diagnosis

Diagnosing undescended testes in adults requires a combination of clinical examination and imaging studies, especially since many adult cases may be asymptomatic or misdiagnosed earlier in life.

1. Clinical History:

• Birth and developmental history: Determine if there was a known history of undescended testis or if surgery (orchiopexy) was performed during childhood.
• Symptoms: Ask about infertility, groin or abdominal discomfort, hormonal symptoms, or any previous scrotal abnormalities.
• Fertility issues: Often, adult cryptorchidism is discovered during evaluation for infertility.

2. Physical Examination:

• Scrotal palpation: Primary method to detect absence of one or both testes in the scrotum.
  • If a testis is non-palpable, suspect intra-abdominal or ectopic location.
• Inguinal exam: May reveal a palpable mass or testis in the groin canal.
• Assess for associated conditions: Hernia, gynecomastia, or signs of hormonal deficiency.

3. Imaging Studies:

• Used when the testis is non-palpable or to confirm findings.

a. Scrotal Ultrasound:

• First-line imaging for evaluating testicular position and anatomy.
• May detect testes in inguinal canal or superficial ectopic locations.
• Limitations: May not visualize intra-abdominal testes.

b. Magnetic Resonance Imaging (MRI):

• More accurate than ultrasound in locating non-palpable or intra-abdominal testes.
• Helps assess for malignancy or other abnormalities.

c. Computed Tomography (CT):

• Sometimes used for staging if testicular cancer is suspected.
• Less commonly used than MRI for initial localization due to radiation exposure.

4. Laparoscopy (Diagnostic and Therapeutic):

• Gold standard for identifying intra-abdominal testes.
• Often used when imaging is inconclusive.
• Can allow simultaneous orchiectomy or orchiopexy if needed.

5. Laboratory Tests (Optional):

• Hormonal profile:
  • Testosterone, LH, FSH to evaluate testicular function and endocrine status.
• Tumor markers (if malignancy is suspected):
  • Alpha-fetoprotein (AFP)
  • Beta-hCG
  • Lactate dehydrogenase (LDH)

6. Semen Analysis:

• Recommended for men presenting with infertility.
• Assesses sperm count, motility, and morphology.

Complications

When undescended testes are not corrected in early childhood, they can lead to several serious complications in adulthood. These complications may affect fertility, hormone production, and cancer risk, and often require surgical or long-term medical management.

1. Testicular Cancer

• Most serious complication.
• Adults with cryptorchidism have a 4–10 times higher risk of developing testicular germ cell tumors—especially seminomas.
• Risk is highest when the testis is intra-abdominal and not corrected before puberty.
• Tumors may present as painless masses or be discovered incidentally.

2. Infertility or Subfertility

• Due to the higher temperature outside the scrotum, undescended testes often have impaired spermatogenesis.
• More common in bilateral cryptorchidism, though even unilateral cases may reduce sperm quality.
• Late correction (after puberty or in adulthood) offers limited benefit to fertility.

3. Hormonal Dysfunction (Hypogonadism)

• Long-term cryptorchidism may impair Leydig cell function, reducing testosterone production.
• Can cause:
  • Fatigue
  • Decreased libido
  • Erectile dysfunction
  • Loss of muscle mass or body hair
  • Gynecomastia

4. Testicular Torsion

• Undescended testes are at higher risk of torsion due to lack of proper fixation within the scrotum.
• Torsion causes sudden, severe groin or abdominal pain and can lead to testicular loss if not treated quickly.

5. Inguinal Hernia

• Many undescended testes, especially those in the inguinal canal, are associated with indirect inguinal hernias due to persistent patent processus vaginalis.

6. Trauma Risk

• Ectopic or inguinal testes are more prone to trauma or injury, particularly during physical activity, due to lack of protection from the scrotum.

7. Psychological and Psychosocial Impact

• Concerns about body image, masculinity, or fertility can lead to:
  • Anxiety
  • Low self-esteem
  • Depression
  • Relationship or sexual issues

Treatment

Treatment of cryptorchidism in adults is guided by the testis location, age, fertility goals, and risk of malignancy. Unlike in children, where preserving fertility is often a priority, adult management focuses more on cancer prevention and symptom relief.

1. Surgical Treatment

A. Orchiectomy (Surgical Removal of the Testis)

• First-line treatment in most adult cases.
• Recommended for:
  • Intra-abdominal or high inguinal testes
  • Atrophic or non-functional testes
  • Men over puberty with no fertility benefit from preservation
• Reduces risk of testicular cancer.
• May be performed laparoscopically (for intra-abdominal testis) or through an open approach.

B. Orchiopexy (Surgical Repositioning of the Testis)

• Rarely performed in adults, but may be considered if:
  • The testis is palpable, not atrophic, and appears functional.
  • The patient is young and wishes to preserve fertility or hormonal function.
  • Cancer risk is low, and surveillance is possible.
• Allows for easier testicular self-examination and cancer monitoring.

2. Hormonal Therapy

• Not recommended in adults.
• hCG or GnRH therapy is sometimes used in children but is ineffective for testicular descent in adult patients.

3. Fertility Counseling and Management

• Referral to a fertility specialist if the patient wishes to conceive.
• Semen analysis and hormonal testing to evaluate reproductive potential.
• Options may include:
  • Assisted reproductive technologies (ART)
  • Sperm retrieval techniques if viable sperm are present

4. Hormone Replacement Therapy (HRT)

• For men with hypogonadism due to bilateral cryptorchidism or testicular failure.
• Testosterone replacement can improve:
  • Libido and sexual function
  • Energy levels
  • Bone density
  • Muscle mass

5. Surveillance and Follow-up

• For patients opting for orchiopexy instead of orchiectomy, or those with unilateral undescended testis, long-term surveillance is essential:
  • Regular physical exams
  • Ultrasound imaging if needed
  • Tumor marker monitoring if there is suspicion of malignancy

Summary

Undescended testes, or cryptorchidism, is a condition where one or both testicles fail to descend into the scrotum. While typically identified and treated in infancy or early childhood, rare cases persist into adulthood due to missed diagnosis or failed treatment. In adults, the condition is clinically significant due to increased risks of testicular cancer, infertility, and hormonal dysfunction. Common findings include an empty scrotum, inguinal or abdominal mass, and infertility. Diagnosis involves physical examination and imaging (ultrasound, MRI), with laparoscopy used for non-palpable testes. Treatment is usually orchiectomy to reduce cancer risk; orchiopexy is considered in select younger adults. Early recognition and management are essential to reduce long-term complications.

Prof. Dr. Emin ÖZBEK

Urologist

Istanbul- TURKIYE