Overview

An undescended testicle, medically known as cryptorchidism, is a condition in which one or both testicles fail to move down into the scrotum before birth. Normally, during fetal development, the testicles form in the abdomen and descend into the scrotum during the final months of pregnancy. When this descent does not occur properly, the testicle remains in the abdomen, groin, or high scrotal area. Undescended testicles are one of the most common birth abnormalities in male infants and are usually diagnosed shortly after birth. Early diagnosis and treatment are crucial to reduce the risk of complications such as infertility and testicular cancer.

Causes

The exact cause of undescended testicles is not always known, but several factors can contribute to its occurrence:

• Premature Birth: Babies born before full term have a higher risk, as the testicles usually descend during the final trimester.
• Hormonal Imbalances: Disruptions in the hormonal signals responsible for testicular descent can result in cryptorchidism.
• Genetic Factors: A family history of undescended testicles or other genital abnormalities increases the risk.
• Low Birth Weight: Infants with lower birth weights have a higher incidence of the condition.
• Maternal Factors: Exposure to certain environmental factors, smoking during pregnancy, or gestational diabetes may raise the risk.
• Congenital Syndromes: Some genetic syndromes, such as Prader-Willi syndrome or Down syndrome, are associated with undescended testicles.

Symptoms

The primary sign of an undescended testicle is the absence of one or both testicles in the scrotum. Other related symptoms may include:

• Empty Scrotum: The scrotal sac appears underdeveloped or less full on one or both sides.
• Non-palpable Testicle: In some cases, the testicle cannot be felt in the scrotum or groin area.
• Retractile Testicle (Related Condition): Although not true undescended testicles, retractile testicles can temporarily move out of the scrotum but typically descend normally over time.
• Asymmetry: One side of the scrotum may look different or smaller than the other side.
• Groin Bulge: Rarely, the undescended testicle may cause a noticeable bulge in the groin region.

Diagnosis

Diagnosing an undescended testicle is usually straightforward and involves the following steps:

• Physical Examination: A doctor examines the scrotum and groin to locate the testicle, typically done during newborn checkups.
• Ultrasound: A non-invasive imaging test may help locate a non-palpable testicle, though its effectiveness is limited.
• MRI or CT Scan: Occasionally used for more detailed imaging if the testicle is not found on physical exam or ultrasound.
• Laparoscopy: A minimally invasive surgical procedure may be used both to diagnose and treat non-palpable testicles located within the abdomen.
• Hormonal Testing: In rare cases, hormone levels may be evaluated, especially if both testicles are undescended and intersex conditions are suspected.

Treatment

Treatment aims to relocate the testicle into the scrotum, typically within the first year of life, to preserve fertility potential and reduce cancer risk. Treatment options include:

• Observation: In some cases, especially in premature infants, the testicle may descend naturally within the first few months of life.
• Hormonal Therapy: Medications such as human chorionic gonadotropin (hCG) may be tried to stimulate testicular descent, though success rates vary and this is less commonly used today.
• Orchiopexy (Surgery): The most common and effective treatment involves surgically moving the testicle into the scrotum, ideally between 6 and 18 months of age.
• Laparoscopic Surgery: Used for non-palpable testicles located inside the abdomen, allowing both diagnosis and treatment during the same procedure.
• Removal (Orchiectomy): In cases where the testicle is non-functional or severely underdeveloped, surgical removal may be advised, especially in older children or adults.

Prognosis

The prognosis for boys with undescended testicles is generally good when treated early:

• Fertility Outcomes: Early treatment improves the chances of normal fertility, though men with a history of undescended testicles may have slightly lower sperm counts.
• Cancer Risk: Treating cryptorchidism reduces but does not eliminate the lifetime risk of testicular cancer. Regular self-examination is advised during adulthood.
• Cosmetic Results: Orchiopexy provides a normal appearance to the scrotum, which can positively impact psychological well-being.
• Reduced Risk of Torsion and Trauma: Surgery reduces the risk of testicular torsion and traumatic injury by relocating the testicle to a more protected position.
• Overall Outcome: Most children lead normal, healthy lives after timely treatment, with regular follow-up recommended to monitor testicular development and function.

In summary, early detection and timely surgical treatment of undescended testicles result in favorable health, reproductive, and cosmetic outcomes in the majority of cases.