Cryptorchidism

Definition | Aetiology | Pathophysiology | Risk Factors | Signs and Symptoms | Investigations | Management | Example Management | References

Definition

Cryptorchidism, also known as undescended testicle, is a condition in which one or both of the testes fail to descend from the abdomen into the scrotum before birth. It is a common congenital condition in male infants.

Aetiology

The exact cause of cryptorchidism is unknown, but it is believed to be due to a combination of genetic, hormonal, and environmental factors that affect the normal descent of the testes during fetal development.

Pathophysiology

During fetal development, the testes form in the abdomen and usually descend into the scrotum by the time of birth. Cryptorchidism occurs when this descent is halted or delayed. The condition can be classified as:

• Intra-abdominal: Testes located within the abdomen.
• Inguinal: Testes located in the inguinal canal.
• Ectopic: Testes located outside the normal path of descent.

Risk Factors

• Premature birth
• Low birth weight
• Family history of cryptorchidism or other genital abnormalities
• Maternal health factors: Such as diabetes, smoking, and alcohol use during pregnancy
• Hormonal disorders

Signs and Symptoms

The primary sign of cryptorchidism is the absence of one or both testicles in the scrotum. The condition is often detected during a routine physical examination in newborns and infants. Other symptoms may include:

• Empty scrotum or small scrotal sac
• Inguinal fullness (if the testicle is in the inguinal canal)

Investigations

• Clinical history and physical examination
• Ultrasound: To locate the undescended testicle
• Magnetic Resonance Imaging (MRI) or Computed Tomography (CT) scan: Rarely used but can help locate intra-abdominal testicles
• Hormonal tests: In some cases, to assess endocrine function

Management

Primary Care Management

• Observation: In some cases, the testicle may descend on its own within the first few months of life. Regular monitoring is necessary.
• Referral: If the testicle has not descended by six months of age, referral to a paediatric urologist or surgeon is recommended.

Specialist Management

• Hormonal therapy: Human chorionic gonadotropin (hCG) or gonadotropin-releasing hormone (GnRH) analogues may be used, though less common.
• Surgery: Orchiopexy is the most common surgical procedure to reposition the undescended testicle into the scrotum. It is typically performed between 6-12 months of age.
• Monitoring: Regular follow-up to monitor testicular function and detect potential complications, such as infertility or testicular cancer.

Example Management for Cryptorchidism

A male infant presenting with an undescended testicle should be monitored closely during the first few months of life. If the testicle has not descended by six months of age, referral to a paediatric urologist is recommended. Surgical intervention, typically orchiopexy, may be performed to reposition the testicle into the scrotum. Regular follow-up is necessary to monitor testicular function and detect any potential complications.

References

1. NICE. (2024). Cryptorchidism: Diagnosis and Management. Retrieved from NICE
2. NHS. (2023). Undescended Testicles (Cryptorchidism). Retrieved from NHS
3. British Association of Paediatric Surgeons (BAPS). (2022). Guidelines for the Management of Cryptorchidism. Retrieved from BAPS
4. American Urological Association (AUA). (2021). Cryptorchidism: Diagnosis and Management. Retrieved from AUA

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