Background

• Cryptorchidism is a congenital condition characterized by the absence of testicles in the scrotum at birth. Instead of descending into the scrotum during fetal development, the affected testicle(s) remain in the abdomen or in the inguinal canal, the pathway through which they normally descend.
• Cryptorchidism is one of the most common congenital urological conditions in male infants, with a prevalence of about 1-4% of full-term births. While some cases may resolve spontaneously during the first few months of life, timely surgical intervention, known as orchidopexy, is usually recommended to reposition the undescended testicle(s) into the scrotum to ensure proper development and reduce the risk of long-term complications and an increased risk of testicular cancer. 

Epidemiology

Incidence at Birth: 

• Cryptorchidism is one of the most common congenital anomalies in male newborns. 
• The incidence of cryptorchidism varies based on the population studied and criteria used for diagnosis. Generally, it is estimated to occur in about 2-4% of full-term male infants. 

Prematurity: 

• The incidence of cryptorchidism is higher in premature infants. It is estimated in approximately 30% of premature male infants. 
• Premature birth is a risk factor for cryptorchidism. 

Laterality: 

• Cryptorchidism can affect one or both testicles. When one testicle is affected, it is more common for it to be the right testicle than the left. 

Family History: 

• Family history may increase the risk of cryptorchidism. Boys with a family history of the condition may have a higher likelihood of developing it. 

Maternal Factors: 

• Certain maternal factors during pregnancy have been associated with an increased risk of cryptorchidism. These factors include maternal smoking, exposure to endocrine-disrupting chemicals, and certain medications taken during pregnancy. 

Geographical Variations: 

• The incidence of cryptorchidism can vary by geographic region. Some studies have reported regional differences in the prevalence of the condition. 

Ethnic and Racial Differences: 

• There may be variations in the prevalence of cryptorchidism among different ethnic and racial groups, although the evidence is not consistent across all studies. 

Anatomy

Pathophysiology

• The pathophysiology of cryptorchidism, also known as undescended testicles, involves the failure of one or both testes to descend properly into the scrotum during fetal development.
• This condition typically occurs due to a disruption in the normal physiological process responsible for testicular descent. 

Normal Testicular Descent: 

• During normal fetal development, the testes begin to form near the kidneys within the abdominal cavity. 
• Around seventh month of gestation, the testes gradually start descending from the abdomen into the scrotum through the inguinal canal. This process is known as testicular descent. 

Role of Hormones: 

• Testicular descent is regulated by hormonal signals, primarily involving two hormones: human chorionic gonadotropin (hCG) and testosterone. 
• The Leydig cells in testes produce testosterone under the influence of hCG, and this hormone plays a crucial role in promoting testicular descent. 

Cryptorchidism Development: 

• Cryptorchidism occurs when the process of testicular descent is interrupted or delayed. 
• There can be several factors contributing to the pathophysiology of cryptorchidism, including: 
• Hormonal Deficiency: Insufficient production of testosterone or other hormones involved in testicular descent can impede the process. 
• Anatomic Obstructions: Physical obstructions, such as a shortened or narrowed inguinal canal or abnormalities in the gubernaculum (the structure that helps guide testicular descent), can prevent the testis from reaching the scrotum. 
• Environmental Factors: Exposures to certain environmental factors, such as maternal smoking or exposure to endocrine-disrupting chemicals during pregnancy, may contribute to the development of cryptorchidism. 

Potential Consequences: 

• Impaired Fertility: Testicular descent is essential for normal testicular development and sperm production. Cryptorchidism can lead to impaired sperm production, which may affect fertility. 
• Testicular Cancer: Individuals with a history of cryptorchidism have a higher risk of testicular cancer, particularly if the condition is not treated. 

Etiology

Hormonal Factors: 

• Hormonal signaling is critical for the normal descent of testicles into the scrotum during fetal development. 
• Insufficient production or action of hormones involved in testicular descent, particularly testosterone and human chorionic gonadotropin (hCG), can lead to cryptorchidism. 
• Hormonal imbalances can disrupt the process of testicular descent, preventing one or both testicles from reaching the scrotum. 

Genetic Predisposition: 

• There is evidence to suggest a genetic component to cryptorchidism. Boys with a family history of the condition may have an increased risk of developing it themselves. 
• Specific genetic factors or variations may contribute to an individual’s susceptibility to cryptorchidism. 

Anatomic Factors: 

• Structural abnormalities in the inguinal canal, which the testicles must pass through during descent, can impede their movement into the scrotum. 
• Abnormalities in the gubernaculum, a structure that guides testicular descent, can also hinder the process. 

Hormone Disruptors: 

• Exposure to endocrine-disrupting chemicals, like phthalates and bisphenol A (BPA), has increased concerns about their potential role in cryptorchidism. These chemicals can interfere with hormonal regulation and may affect testicular descent. 

Genetics

Prognostic Factors

Age: 

• The age at which cryptorchidism is diagnosed and treated plays a significant role in prognosis. Early diagnosis and treatment, typically before the age of two, are associated with better outcomes. 
• Diagnosis and treatment may lead to a higher risk of complications, including impaired fertility and an increased risk of testicular cancer. 

Location of Undescended Testicle: 

• The specific location of the undescended testicle within the inguinal canal or abdomen can impact prognosis. 
• Testicles that are closer to the scrotum or within the inguinal canal have a better prognosis than those located higher in the abdomen. 

Bilateral vs. Unilateral Cryptorchidism: 

• Bilateral cryptorchidism, where both testicles are affected, typically has a poorer prognosis compared to unilateral cryptorchidism, which involves only one testicle. 
• Bilateral cases may have a more significant impact on fertility potential. 

Successful Surgical Outcome (Orchidopexy): 

• The success of the surgical procedure known as orchidopexy, which involves moving the undescended testicle into the scrotum and securing it, is crucial for a positive prognosis. 
• A successful procedure typically leads to proper testicular development and function. 

Hormone Levels: 

• Hormone levels, particularly testosterone and human chorionic gonadotropin (hCG), can impact prognosis. 
• Normalization of hormone levels following treatment is associated with improved testicular function and fertility potential. 

Associated Conditions and Complications: 

• The presence of associated conditions or complications, such as testicular atrophy (shrinkage), inguinal hernias, or other genital abnormalities, can influence prognosis. 
• Complications may require additional medical or surgical interventions. 

Clinical History

Age: 

• Cryptorchidism is often diagnosed in infants or young children. The age at which it is first noticed by parents or healthcare providers can vary. 
• Some cases of cryptorchidism may not become apparent until later in childhood. 

Family History: 

• Inquiring about a family history of cryptorchidism or other reproductive and developmental conditions can provide important information about potential genetic factors. 

Birth History: 

• Information related to the patient’s birth, including gestational age, birth weight, and any complications during pregnancy or delivery, can be relevant to the evaluation. 

Associated Comorbidities: 

• It’s important to assess for any associated medical conditions or comorbidities, as some conditions may be related to cryptorchidism. 
• For example, conditions like hypospadias (a congenital penile malformation) or inguinal hernias may co-occur with cryptorchidism. 

Acuity of Presentation: 

• The acuity of presentation refers to how urgently the condition is identified and treated. 
• Cryptorchidism can be identified during routine newborn examinations or may become evident when parents or caregivers notice that one or both testicles are not in the scrotum. 
• Urgent or delayed presentation can impact the timing of diagnosis and treatment. 

Physical Examination

Inspection: 

• Begin by visually inspecting the genital and scrotal area. 
• Look for the presence or absence of testicles within the scrotum. 

Palpation: 

• Gently palpate the scrotum to confirm the presence or absence of testicles. 
• Note the shape, size, and consistency of the scrotum. 

Examination of Inguinal Canal: 

• Palpate the inguinal canal on each side to assess for the presence of palpable testicles in the groin area. 
• The inguinal canal is the pathway through which testicles descend into the scrotum during normal development. 

Bilateral Examination: 

• Examine both sides of the scrotum and the inguinal canals to assess for unilateral or bilateral cryptorchidism. 
• Note whether one or both testicles are undescended. 

Differentiation from Retractile Testicles: 

• Distinguish between true cryptorchidism and retractile testicles, which are testicles that temporarily retract into the groin but can be manually manipulated into the scrotum. 
• A retractile testicle will usually descend into the scrotum with gentle pressure during examination. 

Examination for Associated Conditions: 

• During the examination, assess for any associated conditions that may co-occur with cryptorchidism, such as inguinal hernias or hypospadias (a congenital penile malformation). 

Age group

Associated comorbidity

Associated activity

Acuity of presentation

Differential Diagnoses

Retractile Testicles: 

• Retractile testicles are not true undescended testicles. They are testicles that can temporarily retract into the groin but can be manually manipulated into the scrotum. 
• Distinguishing between retractile testicles and cryptorchidism is important because retractile testicles do not require surgical intervention. 

Ectopic Testicles: 

• Ectopic testicles are testicles that have descended but are located outside the scrotum, often in unusual locations such as the perineum or along the path of descent. 
• Ectopic testicles should be differentiated from cryptorchidism, as their management may differ. 

Anorchia (Absence of Testicles): 

• Anorchia refers to the complete absence of one or both testicles. It is a rare condition. 

• A careful physical examination, imaging studies, and hormonal evaluation can help differentiate between cryptorchidism and anorchia. 

Acquired Conditions: 

• Conditions such as testicular torsion, testicular tumors, or inflammatory conditions can cause acute scrotal pain and may require immediate evaluation. 
• These conditions should be ruled out, especially in cases of sudden-onset scrotal pain. 

Inguinal Hernias: 

• Inguinal hernias occurs when a portion of the intestine or other tissue protrudes into the inguinal canal. 
• Inguinal hernias can sometimes be mistaken for undescended testicles, especially if the hernia contains a loop of bowel. 

Epididymitis or Orchitis: 

• Epididymitis is inflammation of the epididymis, and orchitis is inflammation of the testicle. 
• These conditions can cause scrotal pain, swelling, and tenderness, which may mimic the presentation of cryptorchidism. 

Varicoceles: 

• Varicoceles are dilated veins in the scrotum. They can sometimes be mistaken for other scrotal conditions. 
• A physical examination and ultrasound can help differentiate varicoceles from cryptorchidism. 

Laboratory Studies

Imaging Studies

Procedures

Histologic Findings

Staging

Treatment Paradigm

Diagnosis and Evaluation: 

• Cryptorchidism is typically diagnosed during a physical examination by a healthcare provider. The initial evaluation involves confirming the absence of one or both testicles in the scrotum and assessing the location of the undescended testicle(s). 
• Additional diagnostic tests, such as ultrasound or imaging studies, may be used to determine the exact location and anatomy of the testicle(s). 

Timing of Treatment: 

• Treatment for cryptorchidism is recommended as early as possible. It is most effective when initiated during infancy or early childhood. 
• The timing of treatment may depend on factors such as the age of the child, the location of the undescended testicle, and any associated conditions. 

Surgical Intervention (Orchidopexy): 

• The primary treatment for cryptorchidism is surgical intervention, known as orchidopexy or orchiopexy. 
• Orchidopexy involves surgically moving the undescended testicle(s) from their abnormal location (such as the inguinal canal or abdomen) into the scrotum. The testicle(s) are then anchored in the scrotum to ensure they remain in place. 
• Orchidopexy can typically be performed as an outpatient procedure and is safe and effective when done by a skilled surgeon. 

Bilateral Cryptorchidism: 

• In cases of bilateral cryptorchidism (both testicles are undescended), treatment typically involves two separate surgeries, one for each testicle. 
• The surgeries are often performed a few months apart to minimize the risk of complications. 

by Stage

by Modality

Chemotherapy

Radiation Therapy

Surgical Interventions

Hormone Therapy

Immunotherapy

Hyperthermia

Photodynamic Therapy

Stem Cell Transplant

Targeted Therapy

Palliative Care

non-pharmacological-treatment-of-cryptorchidism

Lifestyle modifications: 

• Hydration: Adequate hydration is important for overall health but does not directly impact the correction of cryptorchidism. However, staying well-hydrated is generally beneficial for urinary and overall health. 
• Healthy Diet: Encourage a balanced and nutritious diet, especially for growing children. A healthy diet supports overall well-being and development but does not directly affect the correction of cryptorchidism. 
• Physical Activity: Promote regular physical activity for children and adolescents to maintain a healthy lifestyle. Regular exercise is important for general health but does not influence the correction of cryptorchidism. 
• Avoidance of Smoking and Alcohol: While these lifestyle factors are unrelated to cryptorchidism itself, it’s essential for parents and caregivers to maintain a smoke-free and alcohol-free environment, especially around children, to protect their health and well-being. 
• Proper Care After Surgery: If orchiopexy is performed, follow post-operative care instructions provided by healthcare provider carefully. This may include wound care, activity restrictions, and follow-up appointments. 
• Educational and Emotional Support: For older children and adolescents with cryptorchidism, provide age-appropriate information about the condition and the surgical procedure. Emotional support and communication can help children and parents cope with the diagnosis and treatment. 

Use of hormonal therapy in cryptorchidism

Human Chorionic Gonadotropin (hCG): 

• hCG is the hormone produced during pregnancy, and it has similarities to luteinizing hormone (LH), which plays a role in the descent of the testes into the scrotum. 
• hCG therapy is typically considered in cases of cryptorchidism where the testis is palpable but has not descended fully into the scrotum. 
• The treatment involves a series of hCG injections, which stimulate the testes to produce testosterone and promote testicular descent. 
• If successful, this therapy can lead to the descent of the testis into the scrotum within a few months. 

Gonadotropin-Releasing Hormone (GnRH): 

• GnRH analogs, such as leuprolide acetate, are synthetic hormones that act on pituitary gland to stimulate LH and follicle-stimulating hormone (FSH) release. 
• GnRH therapy may be considered in selected cases of cryptorchidism, particularly when hCG treatment has not been effective or when the testis is not palpable. 
• It is often used in prepubertal boys with bilateral cryptorchidism or when there is a high likelihood of an intra-abdominal testis. 
• GnRH therapy can be administered as an injection, usually in a monthly or quarterly regimen. 

surgical-therapy-of-cryptorchidism

Orchiopexy (Orchidopexy): 

• Orchiopexy is a surgical procedure aimed at bringing the undescended testis into the scrotum and fixing it in place. 

• The procedure is typically performed in pediatric patients, ideally between the ages of 6 months and 1 year, although it can be done later if necessary. 
• The surgeon makes a small incision in the groin or scrotum, locates the undescended testis, and carefully frees it from any surrounding tissues. 
• The testis is then brought down into the scrotum and secured in its new position using sutures. 
• In some cases, if the testis is located high in the abdomen or pelvis, a laparoscopic or open abdominal approach may be necessary to locate and bring down the testis. 
• Orchiopexy helps to correct the anatomical position of the testis, ensuring that it is in the scrotum, where it can properly function and support fertility. 

Bilateral Orchiopexy: 

• In cases where both testes are undescended (bilateral cryptorchidism), orchiopexy may be performed on both testes during the same surgical procedure. 
• This approach aims to correct the position of both testes and is typically done when both testes are palpable.

management-of-cryptorchidism

Acute Phase: 

• Diagnosis: The acute phase begins with the diagnosis of cryptorchidism, typically during infancy or early childhood. Diagnosis often occurs during a routine physical examination, but if the testes are not palpable in the scrotum, further evaluation may be needed, such as imaging studies. 
• Timing of Surgery: The timing orchiopexy is a critical decision during the acute phase. The surgery is usually recommended between the ages of 6 months and 1 year, although it may be performed later if necessary. Early intervention is essential for optimal outcomes. 
• Surgical Intervention (Orchiopexy): The cornerstone of acute-phase management is surgical correction. Orchiopexy involves the surgical placement of the undescended testis into the scrotum and is typically performed as an outpatient procedure. The surgeon locates the testis, frees it from any surrounding tissues, and secures it in the scrotum. If both testes are affected, bilateral orchiopexy may be performed. 
• Postoperative Care: After surgery, the child will require postoperative care and monitoring. Parents or caregivers should follow the surgeon’s instructions regarding wound care, activity restrictions, and follow-up appointments. 

Chronic Phase: 

• Long-Term Follow-Up: Following successful orchiopexy, the patient enters the chronic phase of management. Regular follow-up with healthcare provider are crucial to monitor the development and function of the testes. The frequency of follow-up visits may vary based on individual circumstances. 
• Monitoring: During chronic-phase follow-up, the healthcare provider will assess testicular growth, development, and function. This includes evaluating the size, consistency, and position of the testes and assessing hormone levels if needed. 

• Fertility Preservation: Cryptorchidism is associated with a higher risk of infertility, even after orchiopexy. In the chronic phase, fertility preservation becomes a concern. Adolescents and adults who have had cryptorchidism should be aware of potential fertility issues and may consider fertility preservation options if desired. 
• Testicular Cancer Risk: Individuals with a history of cryptorchidism may have a slightly increased risk of testicular cancer. Regular self-examinations and healthcare provider check-ups to monitor for any concerning changes in the testes are advisable. 
• Education and Counseling: Parents and patients should receive education and counseling about the long-term implications of cryptorchidism, including fertility and testicular cancer risks. Adolescents should be taught how to perform testicular self-examinations. 

Medication

Future Trends

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References

• www.Cryptorchidism.StatPearls.gov 
• www.Cryptorchidism.ncbi.nlm.nih.gov