Cryptorchidism: Causes, Signs, Diagnosis, Prevention & Treatment

Cryptorchidism: Causes, Signs and Symptoms, Diagnosis, Prevention, and Treatment

Introduction

• Cryptorchidism, commonly known as undescended testicle, is one of the most frequent congenital disorders affecting male infants. Normally, a baby boy’s testicles develop in the abdomen during pregnancy and descend into the scrotum before birth. However, in cases of cryptorchidism, one or both testicles fail to descend properly.

• This condition can affect fertility, hormone production, and increase the risk of testicular cancer later in life if left untreated. Understanding cryptorchidism is crucial for parents, healthcare providers, and individuals to ensure timely management and prevent long-term complications.

• In this article, we will explore the causes, risk factors, signs and symptoms, diagnosis, prevention, and treatment of cryptorchidism in detail.

What is Cryptorchidism?

Cryptorchidism is a medical condition where one or both testicles do not move into the scrotum before birth. The testicle may remain in the abdomen, inguinal canal, or may be ectopic (in an abnormal location).

Unilateral cryptorchidism – one testicle fails to descend.

Bilateral cryptorchidism – both testicles fail to descend.

• It is estimated that 3–5% of full-term male infants and up to 30% of premature male infants are born with this condition. In many cases, the testicle descends spontaneously within the first few months of life, but if it does not, medical or surgical treatment is necessary.

Causes of Cryptorchidism

The exact cause of cryptorchidism is not always clear, but several factors can contribute to the condition.

1. Hormonal Factors

• Inadequate production of testosterone or gonadotropins during fetal development may prevent testicular descent.

• Insensitivity of the tissues to hormones can also interfere with the process.

2. Mechanical and Anatomical Factors

• Narrow inguinal canal or abnormal abdominal structures.

• Short spermatic cord or adhesions preventing testicular movement.

• Failure of the gubernaculum (a structure that guides testicular descent) to function properly.

3. Genetic and Chromosomal Abnormalities

• Mutations in genes regulating reproductive development.

• Syndromes such as Prader-Willi, Noonan syndrome, and Kallmann syndrome are associated with cryptorchidism.

4. Environmental and Maternal Risk Factors

• Premature birth (most common risk factor).

• Low birth weight or intrauterine growth restriction (IUGR).

• Maternal smoking, alcohol consumption, or exposure to pesticides during pregnancy.

• Hormonal disorders in the mother (such as gestational diabetes).

5. Other Risk Factors

• Family history of cryptorchidism.

• Congenital anomalies like spina bifida, hypospadias, or abdominal wall defects.

Signs and Symptoms of Cryptorchidism

Cryptorchidism is usually detected at birth or during routine pediatric examination. The signs and symptoms may vary depending on whether the condition is unilateral or bilateral.

Common Signs

1. Empty Scrotum – One or both sides of the scrotum appear underdeveloped or flat.

2. Non-palpable Testis – The testicle cannot be felt in the scrotum.

3. Asymmetry of Scrotum – One side appears smaller than the other.

Symptoms in Later Life (if untreated)

• Infertility due to impaired sperm production.

• Testicular cancer risk increases significantly.

• Hormonal imbalance leading to reduced testosterone production.

• Inguinal hernia associated with undescended testis.

• Psychological issues due to underdeveloped genital appearance.

Complications of Cryptorchidism

Testicular torsion (twisting of the spermatic cord).

• Trauma to the undescended testis.

• Subfertility or complete infertility.

• Endocrine dysfunction.

Diagnosis of Cryptorchidism

Early diagnosis is important for effective treatment. A combination of clinical examination and imaging tests is used to confirm cryptorchidism.

1. Physical Examination

• The doctor checks the scrotum and groin to feel for the presence of testes.

• A retractile testis (which moves in and out of the scrotum) is distinguished from a true undescended testis.

2. Imaging Studies

• Ultrasound – used to locate the testis within the abdomen or groin.

MRI or CT scan – rarely needed but may help in complex cases.

3. Laparoscopy

• Considered the gold standard for diagnosing non-palpable testes.

• Provides direct visualization and allows surgical correction in the same procedure.

4. Hormonal Tests

• hCG stimulation test may be performed to assess testosterone response.

• Useful in cases of bilateral non-palpable testes.

5. Differential Diagnosis

• Retractile testis.

• Absent or atrophic testis.

• Disorders of sexual development (DSD).

Prevention of Cryptorchidism

While cryptorchidism cannot always be prevented, certain measures can reduce the risk.

1. Healthy Maternal Lifestyle

• Avoid smoking, alcohol, and drug use during pregnancy.

• Ensure adequate prenatal care and balanced nutrition.

2. Avoid Environmental Toxins

Reduce exposure to pesticides, endocrine-disrupting chemicals, and industrial pollutants.

3. Management of Maternal Health Conditions

• Control of gestational diabetes and hypertension.

• Hormonal balance during pregnancy.

4. Preterm Birth Prevention

Adequate prenatal care can reduce the risk of premature delivery, which is strongly linked with cryptorchidism.

Treatment of Cryptorchidism

If the testicle does not descend naturally by 6 months of age, treatment is recommended. Early treatment improves fertility outcomes and reduces cancer risk.

1. Watchful Waiting

• In some cases, spontaneous descent occurs within the first 3–6 months.

• After 6 months, treatment should be initiated.

2. Hormonal Therapy

• hCG injections (human chorionic gonadotropin) stimulate testosterone production and may help the testicle descend.

• GnRH (Gonadotropin-Releasing Hormone) analogs are sometimes used.

• Success rates are limited (around 20–30%), and surgical treatment is often required.

3. Surgical Treatment (Orchiopexy)

• Orchiopexy is the standard treatment for cryptorchidism.

• Performed between 6–18 months of age.

• The testis is located, mobilized, and fixed into the scrotum.

• Laparoscopic orchiopexy is used for non-palpable intra-abdominal testes.

4. Orchiectomy

If the testis is severely atrophic or dysplastic, it may be removed to prevent malignancy.

5. Long-Term Follow-Up

• Regular testicular self-examination after puberty.

• Monitoring fertility potential and hormonal function.

• Screening for testicular cancer risk.

Prognosis

• Early treatment ensures good prognosis.

• Fertility is usually preserved if orchiopexy is done before 18 months of age.

• Risk of testicular cancer remains higher than the general population but is significantly reduced after surgical correction.

FAQs About Cryptorchidism

1. Can cryptorchidism correct itself?
Yes, in many newborns, the testicle descends on its own within the first few months. However, if it does not by 6 months, treatment is necessary.

2. Is cryptorchidism painful?
Most cases are painless, but complications like torsion or hernia can cause pain.

3. Does cryptorchidism affect fertility?
Yes, untreated cryptorchidism can lead to infertility, especially if both testicles are undescended.

4. What is the best age for surgery?
Surgery is ideally performed between 6 and 18 months of age for the best fertility and cancer-prevention outcomes.

5. Can cryptorchidism come back after treatment?
Rarely, the testicle may ascend again, requiring further intervention.

Conclusion

• Cryptorchidism is a common but serious condition that requires timely recognition and treatment. While many cases resolve naturally within the first few months of life, persistent undescended testes need medical or surgical correction. Early diagnosis, preventive maternal health measures, and proper surgical management play a key role in ensuring normal fertility, hormone production, and reducing the risk of testicular cancer.

• Raising awareness about cryptorchidism helps parents seek early medical care, ensuring a healthier future for affected children.

I hope that you liked this article.
Thanks!! 🙏 😊
Writer: Vandita Singh, Lucknow (GS India Nursing Group)

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