Overview
Definition:
Cryptorchidism, also known as an undescended testis, is a condition characterized by the failure of one or both testes to descend into the scrotum during fetal development
The testes may be located anywhere along the normal path of descent, from the abdomen to the superficial inguinal pouch, or may be absent
This condition has significant implications for male fertility and increases the risk of testicular malignancy.
Epidemiology:
Cryptorchidism occurs in approximately 1-4% of term male infants and up to 30% of premature infants
The incidence is higher in premature babies and those with associated conditions like hypospadias or ambiguous genitalia
Bilateral cryptorchidism is less common than unilateral
About 70-80% of undescended testes are palpable, typically in the inguinal canal, while 20-30% are non-palpable and may be intra-abdominal or absent.
Clinical Significance:
Undescended testes are associated with reduced spermatogenesis, leading to subfertility or infertility
The risk of testicular germ cell tumors (TGCTs) is significantly increased in individuals with cryptorchidism, even after successful orchiopexy
Early diagnosis and management are crucial to optimize fertility potential and to allow for timely surveillance for testicular cancer.
Clinical Presentation
Symptoms:
Typically asymptomatic in infancy
Parents or physicians may note the absence of a testis in the scrotum
In older children, pain or discomfort in the groin may be reported, especially if associated with an inguinal hernia
Cosmetic concerns about the appearance of the scrotum are also common.
Signs:
The primary sign is the absence of a palpable testis in the scrotum during physical examination
The undescended testis is often palpable in the inguinal canal or just above it
In cases of non-palpable testes, the scrotum may appear underdeveloped or empty
Associated findings may include hypospadias, penile abnormalities, or an inguinal hernia.
Diagnostic Criteria:
The diagnosis is clinical, based on the failure to palpate a testis within the scrotum during serial physical examinations
Imaging investigations may be used to locate non-palpable testes, but the primary diagnostic criteria remain the physical examination finding of an absent scrotal testis.
Diagnostic Approach
History Taking:
A detailed birth history, including gestational age, is essential
Inquire about any previous medical evaluations, family history of undescended testes or related endocrine disorders, and any associated anomalies like hypospadias or hernias
Assess for any signs of hormonal imbalance or genetic syndromes.
Physical Examination:
A thorough physical examination of the genitalia is critical
The examination should be performed with the child warm and relaxed, ideally in a seated or squatting position to aid testicular descent
The entire path of descent should be palpated from the external inguinal ring to the scrotum
Differentiate between retractile testes (which can be brought into the scrotum) and true undescended testes.
Investigations:
For palpable testes, no imaging is typically required before surgery
For non-palpable testes, imaging like ultrasound or MRI may be considered to localize the testis, although their sensitivity is limited for intra-abdominal testes
Serum hormone levels (e.g., FSH, LH, testosterone) may be useful in cases of bilateral non-palpable testes to assess for testicular tissue or anorchia
Karyotyping is indicated in cases of ambiguous genitalia or bilateral non-palpable testes.
Differential Diagnosis:
Retractile testis (a testis that can be manually brought down into the scrotum and remains there)
Absent testis (anorchia), which may be unilateral or bilateral and is often associated with severe antenatal testicular damage
Surgical removal of a non-viable testis during exploration for cryptorchidism.
Management
Initial Management:
Early diagnosis and referral to a pediatric surgeon or pediatric urologist
A coordinated approach is needed for children with associated anomalies or hormonal concerns.
Medical Management:
Hormone therapy (e.g., human chorionic gonadotropin - hCG) has historically been used but is generally considered less effective than surgery for achieving adequate testicular descent and may not improve fertility outcomes
It is typically reserved for specific cases or as an adjunct.
Surgical Management:
Orchiopexy is the surgical procedure to bring the undescended testis into the scrotum and fix it
The timing of orchiopexy is critical for fertility outcomes
Current recommendations suggest performing orchiopexy ideally between 6 and 18 months of age for unilateral cryptorchidism to maximize the chance of preserving spermatogenic potential
For bilateral cases, the window is similar, aiming for the earlier part of this range
Laparoscopy is often used for locating and managing intra-abdominal testes, facilitating the creation of a scrotal pouch.
Supportive Care:
Postoperative care involves pain management, wound care, and activity restriction
Long-term follow-up is essential for monitoring testicular position, fertility, and for screening for testicular tumors.
Complications
Early Complications:
Bleeding or hematoma formation at the surgical site
Infection of the wound
Testicular torsion (rare but possible post-operatively)
Damage to the spermatic cord structures during surgery.
Late Complications:
Recurrence of cryptorchidism (testis retracting from the scrotum)
Testicular atrophy
Subfertility or infertility
Increased risk of testicular germ cell tumors (TGCTs), with a lifetime risk of approximately 2-8 times that of the general population
These risks persist even after successful orchiopexy.
Prevention Strategies:
Timely surgical intervention (orchiopexy) between 6-18 months of age
Careful surgical technique during orchiopexy to preserve the delicate vascular supply and nerve fibers of the testis
Lifelong surveillance for testicular abnormalities, including regular self-examination for older males.
Prognosis
Factors Affecting Prognosis:
The most critical factor is the timing of orchiopexy
Earlier surgery is associated with better fertility potential and potentially a reduced risk of malignancy
The baseline hormonal status of the patient and the presence of bilateral cryptorchidism also influence prognosis
The location of the undescended testis (intra-abdominal testes generally have poorer prognosis) and the presence of associated anomalies also play a role.
Outcomes:
With timely orchiopexy, fertility rates are improved compared to delayed intervention, although some degree of subfertility may persist
Successful orchiopexy reduces, but does not eliminate, the increased risk of testicular cancer
Long-term follow-up is essential for early detection of any complications.
Follow Up:
Lifelong follow-up is recommended
This should include regular clinical examinations to assess testicular size and position, and patient education on testicular self-examination from adolescence onwards to detect any suspicious masses
Annual check-ups or periodic reviews by a urologist or pediatrician are advised.
Key Points
Exam Focus:
Timing of orchiopexy (6-18 months) is crucial for fertility
Orchiopexy does NOT eliminate, but reduces, the risk of testicular cancer
Differentiate between retractile and undescended testes
Non-palpable testes often require laparoscopy.
Clinical Pearls:
Perform testicular examination in a warm, relaxed child
Palpate the entire path of descent
Consider associated anomalies in patients with cryptorchidism
Counsel patients and parents about long-term risks and follow-up requirements.
Common Mistakes:
Delaying surgery beyond 18 months
Mistaking a retractile testis for a true undescended testis
Inadequate follow-up leading to missed complications like malignancy
Performing unnecessary imaging for palpable testes.