Undescended Testicle

Undescended Testicle (Cryptorchidism): Symptoms, Causes, Types, Diagnosis, and Treatments

Introduction

Undescended testicle, medically known as cryptorchidism, is a condition where one or both of a baby boy’s testicles fail to move into the scrotal sac before birth. This condition is one of the most common genital abnormalities in infants and affects approximately 1-3% of full-term and up to 30% of premature male infants.

The testicles normally develop in the abdomen during fetal development and descend into the scrotum through a passageway called the inguinal canal. In cases of undescended testicle, this process is either incomplete or fails entirely, leading to potential long-term complications if not addressed early.

In this comprehensive guide, we will explore the symptoms, causes, types, diagnosis, and treatment options for undescended testicles. Whether you are a concerned parent, medical student, or general health enthusiast, this guide is designed to give you a thorough understanding of this condition.

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What is an Undescended Testicle?

An undescended testicle is a testicle that has not moved into its proper position in the scrotum. It may remain in the abdomen, inguinal canal, or an ectopic location outside the usual path of descent. This condition usually affects only one testicle (unilateral cryptorchidism), but in some cases, both testicles are undescended (bilateral cryptorchidism).

By the time a baby is born, the testicles are usually located in the scrotum. If one or both are not palpable in the scrotal sac, the diagnosis of cryptorchidism is considered.

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Symptoms of Undescended Testicle

In many cases, cryptorchidism is asymptomatic and is discovered during a routine physical examination. However, the following signs may be present:

1. Empty Scrotum

• The most obvious sign is the absence of one or both testicles in the scrotum.
• The scrotum may appear underdeveloped or asymmetrical.

2. Non-palpable Testicle

• A doctor may not feel the testicle during a physical examination.

3. Inguinal Swelling

• If the testicle is stuck in the inguinal canal, a bulge or swelling may be noticed in the groin area.

4. Associated Symptoms

• Some boys may experience inguinal hernias.
• In older children, there might be pain, especially if testicular torsion occurs.

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Causes of Undescended Testicle

The exact cause of cryptorchidism is not always clear, but multiple factors can influence normal testicular descent. These include:

1. Hormonal Factors

• Inadequate levels of testosterone, INSL3 hormone, or other hormones may disrupt testicular descent.

2. Genetic Factors

• Mutations in certain genes can affect fetal development and disrupt the pathway of descent.

3. Environmental Exposures

• Exposure to endocrine-disrupting chemicals during pregnancy (e.g., phthalates, pesticides) may increase the risk.

4. Premature Birth

• Testicular descent usually occurs in the last trimester, so preterm infants are more at risk.

5. Low Birth Weight

• Babies born with low birth weight are more likely to have undescended testicles.

6. Family History

• A familial predisposition may exist; having a close relative with cryptorchidism increases the risk.

7. Maternal Health

• Conditions like diabetes, obesity, or preeclampsia during pregnancy may increase the likelihood.

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Types of Undescended Testicle

Cryptorchidism can be classified based on the location and the possibility of testicular descent. Understanding the type is crucial for determining the treatment strategy.

1. Palpable Undescended Testicle

These testicles can be felt during a physical exam and are usually located in the inguinal canal or just above the scrotum.

2. Non-palpable Undescended Testicle

These testicles are not felt on examination and may be:

• Abdominal: Still in the abdomen.
• Absent: Never developed.
• Atrophic: Shrunk or non-functional due to impaired blood supply.

3. Retractile Testicle

• The testicle moves back and forth between the scrotum and the groin.
• Common in toddlers, usually does not require treatment.

4. Ectopic Testicle

• The testicle has deviated from its normal path and is located in an unusual position such as:
  • Perineal area
  • Femoral region
  • Opposite side of the scrotum

5. Acquired Undescended Testicle

• Sometimes, a previously descended testicle ascends back into the groin, usually due to a shortened spermatic cord or scarring.

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Diagnosis of Undescended Testicle

Early and accurate diagnosis is critical to avoid complications. Diagnosis is generally based on:

1. Physical Examination

• Conducted by a pediatrician shortly after birth.
• Both scrotums are palpated to assess the presence or absence of testicles.

2. Ultrasound

• Helps locate non-palpable testicles, especially in the inguinal canal or abdomen.

3. MRI or CT Scan

• Rarely used but may be helpful in locating abdominal testicles if ultrasound is inconclusive.

4. Laparoscopy

• Considered the gold standard for diagnosing non-palpable testicles.
• Allows direct visualization and sometimes simultaneous correction.

5. Hormonal Testing

• Blood tests like HCG stimulation test or anti-Müllerian hormone (AMH) levels may help differentiate between absent and undescended testes.

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Complications of Undescended Testicle

If left untreated, cryptorchidism can lead to several complications:

1. Infertility

• Elevated temperature in the abdomen affects sperm production.
• Men with bilateral undescended testicles have a higher risk of infertility.

2. Testicular Cancer

• Increased risk of developing germ cell tumors, even after corrective surgery.
• Regular self-exams and monitoring are advised.

3. Inguinal Hernia

• Often associated with undescended testes.

4. Testicular Torsion

• Twisting of the spermatic cord can cut off blood flow, leading to tissue death.

5. Psychological Effects

• Adolescents may develop self-esteem issues or embarrassment about genital appearance.

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Treatment of Undescended Testicle

The primary goal of treatment is to move the testicle into the scrotum, ideally before 12-18 months of age. Early treatment minimizes the risk of infertility and cancer.

1. Observation

• In the first 6 months of life, some testicles may descend naturally.
• Regular checkups are crucial during this period.

2. Hormonal Therapy

a. Human Chorionic Gonadotropin (hCG)

• Administered via injection to stimulate testosterone production.
• Success rates are 20-30%, so it’s not always effective.

b. Gonadotropin-Releasing Hormone (GnRH)

• Administered nasally or via injection.
• Less commonly used but may be considered in select cases.

3. Surgical Treatment – Orchiopexy

• Gold standard treatment.
• Recommended between 6 to 18 months of age.
• The surgeon moves the testicle into the scrotum and secures it.
• May be done via open surgery or laparoscopy for non-palpable testes.

4. Orchiectomy

• In cases where the testicle is non-functional, atrophic, or significantly abnormal, it may be removed.
• More commonly performed in post-pubertal males with unilateral cryptorchidism to reduce cancer risk.

5. Testicular Prosthesis

• For cosmetic and psychological reasons, especially in older boys or teens.

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Prognosis

Fertility Outcomes

• Men with unilateral cryptorchidism have nearly normal fertility if corrected early.
• Bilateral cases have reduced sperm count and fertility, but early surgery improves outcomes.

Cancer Risk

• Even after orchiopexy, there’s a slightly increased risk of testicular cancer.
• Regular follow-up and self-examinations are essential.

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Prevention of Undescended Testicle

There is no guaranteed way to prevent cryptorchidism, but some steps may reduce risk:

• Prenatal care: Ensuring optimal maternal health.
• Avoiding tobacco, alcohol, and harmful chemicals during pregnancy.
• Managing maternal conditions like diabetes or hypertension.
• Full-term pregnancy: Avoiding premature delivery when possible.

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Living with an Undescended Testicle

Most children who undergo early treatment for an undescended testicle lead normal, healthy lives. Key aspects of long-term care include:

1. Regular Follow-up

• Annual check-ups to monitor testicular size and function.

2. Self-Examination

• Starting in adolescence, monthly testicular self-exams are encouraged.

3. Fertility Evaluation

• Semen analysis and hormone testing in adulthood if fertility is a concern.

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Frequently Asked Questions (FAQs)

1. Is an undescended testicle painful?

• Usually, no. But if there’s associated torsion or hernia, it may cause pain.

2. Can an undescended testicle come down on its own?

• Yes, especially in the first few months of life. After 6 months, spontaneous descent is unlikely.

3. Is surgery safe for infants?

• Yes, orchiopexy is a routine and safe procedure with a high success rate.

4. Does it affect sexual performance?

• If treated early, sexual development and performance are usually normal.

5. Can boys with one testicle father children?

• Yes. Many men with one healthy testicle have normal fertility.

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Conclusion

An undescended testicle, though common in newborn boys, should never be overlooked. Early detection and timely intervention are essential for reducing the risk of infertility, testicular cancer, and other complications.

If you suspect your child may have cryptorchidism, consult a pediatrician or pediatric urologist as soon as possible.

Frequently Asked Questions (FAQs) About Undescended Testicle

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