Cryptorchidism (Undescended Testicle)

A condition where one or both testicles fail to descend into the scrotum during development

Quick Facts

  • Type: Congenital Condition
  • ICD-10: Q53
  • Prevalence: 3-5% of full-term boys
  • Onset: Present at birth

Overview

Cryptorchidism, also known as undescended testicle or undescended testis, is a condition where one or both testicles fail to descend from the abdomen into the scrotum during fetal development. This is one of the most common congenital abnormalities in boys, affecting approximately 3-5% of full-term male infants and up to 30% of premature boys.

During normal fetal development, testicles form in the abdomen and gradually descend through the inguinal canal into the scrotum during the third trimester of pregnancy. In cryptorchidism, this descent is incomplete or absent. The testicle may be located anywhere along the normal path of descent, from the abdomen to the upper scrotum, or it may be located in an abnormal position (ectopic cryptorchidism).

The condition can be unilateral (affecting one testicle) or bilateral (affecting both testicles). About 80% of cases involve only one testicle, with the right testicle being more commonly affected. In many cases, especially in premature infants, the testicle may descend spontaneously within the first few months of life. However, if the testicle hasn't descended by 6 months of age, spontaneous descent is unlikely and treatment is usually recommended.

Early diagnosis and appropriate treatment are important to preserve fertility, reduce the risk of testicular cancer, prevent testicular torsion, and address cosmetic and psychological concerns. With proper management, most boys with cryptorchidism can expect normal sexual development and fertility.

Symptoms

The primary symptom of cryptorchidism is the absence of one or both testicles from their normal position in the scrotum. This condition is usually identified during routine physical examinations.

Primary Signs

Physical Examination Findings

  • Non-palpable testicle: Testicle cannot be felt in the scrotum on physical examination
  • Small or underdeveloped scrotum: The affected side appears smaller than normal
  • Asymmetry: Noticeable difference between the two sides of the scrotum
  • Inguinal mass: Sometimes the testicle can be felt in the groin area

Types of Cryptorchidism

True Undescended Testicle

  • Abdominal: Testicle remains in the abdomen
  • Inguinal: Testicle is located in the inguinal canal
  • High scrotal: Testicle is just outside the scrotum

Ectopic Testicle

  • Superficial inguinal: Located above the inguinal ligament
  • Femoral: Located in the upper thigh
  • Perineal: Located between the scrotum and anus
  • Crossed ectopia: Both testicles on one side

Retractile Testicle

  • Normal variant: Testicle moves between scrotum and groin
  • Strong cremasteric reflex: Muscle pulls testicle up when stimulated
  • Can be manipulated: Testicle can be brought down to scrotum
  • Usually no treatment needed: Often resolves with age

Associated Symptoms (Less Common)

  • Inguinal hernia: Bulge in the groin area (occurs in 90% of cases)
  • Hydrocele: Fluid collection around the testicle
  • Testicular pain: Rare, but may occur if torsion develops
  • Abnormal penile development: In cases with hormonal abnormalities

Age-Related Considerations

Newborns and Infants

  • Condition present at birth
  • May be more noticeable when baby is calm and warm
  • Possible spontaneous descent in first 6 months
  • Higher prevalence in premature infants

Older Children and Adolescents

  • Cosmetic concerns about scrotal appearance
  • Psychological impact of looking different
  • Questions about sexual development
  • Concern about future fertility

Complications (If Untreated)

  • Infertility: Higher temperatures outside scrotum affect sperm production
  • Increased cancer risk: 10-40 times higher risk of testicular cancer
  • Testicular torsion: Higher risk of twisting and cutting off blood supply
  • Trauma: Testicles in abnormal positions more susceptible to injury
  • Psychological effects: Body image and self-esteem issues

When Symptoms Require Immediate Attention

  • Sudden severe pain: May indicate testicular torsion
  • Swelling and redness: In the groin or abdominal area
  • Nausea and vomiting: Associated with severe pain
  • Mass in groin: Sudden appearance of a lump or swelling

Causes

Cryptorchidism results from disruption of the normal process of testicular descent during fetal development. The exact cause is often unknown, but several factors can contribute to this condition.

Normal Testicular Descent

Understanding normal development helps explain what can go wrong:

  1. Formation (6-7 weeks gestation): Testicles develop near the kidneys
  2. First phase descent (10-15 weeks): Testicles move to internal inguinal ring
  3. Second phase descent (25-35 weeks): Testicles pass through inguinal canal to scrotum
  4. Final positioning: Testicles reach bottom of scrotum by birth

Hormonal Factors

Several hormones are essential for normal testicular descent:

Insulin-like Factor 3 (INSL3)

  • Primary hormone: Controls first phase of descent
  • Genetic mutations: INSL3 gene mutations can cause cryptorchidism
  • Receptor defects: Problems with INSL3 receptor (RXFP2)

Androgens (Testosterone)

  • Second phase descent: Essential for inguinoscrotal descent
  • Testosterone deficiency: Can result from various causes
  • Androgen receptor defects: Resistance to testosterone effects

Anti-Müllerian Hormone (AMH)

  • Supporting role: May assist in testicular descent
  • Müllerian duct regression: Important for normal male development

Genetic Factors

Single Gene Disorders

  • INSL3 mutations: Directly affect testicular descent
  • RXFP2 mutations: Affect INSL3 receptor function
  • HOXA10 mutations: Affect developmental pathways
  • AR mutations: Androgen receptor defects

Chromosomal Abnormalities

  • Klinefelter syndrome (47,XXY): Extra X chromosome
  • Prader-Willi syndrome: Deletion on chromosome 15
  • Down syndrome: Trisomy 21
  • Other genetic syndromes: Various chromosomal abnormalities

Environmental Factors

Maternal Factors During Pregnancy

  • Hormone exposure:
    • Estrogen exposure
    • Anti-androgen medications
    • Some pesticides and chemicals
  • Medications:
    • Some pain medications (NSAIDs)
    • Certain antihypertensive drugs
    • Anti-epileptic drugs
  • Lifestyle factors:
    • Alcohol consumption
    • Smoking
    • Obesity

Environmental Chemicals

  • Endocrine disruptors:
    • Phthalates (plasticizers)
    • Bisphenol A (BPA)
    • Pesticides and herbicides
  • Occupational exposures:
    • Industrial chemicals
    • Heavy metals
    • Solvents

Anatomical Factors

Mechanical Obstructions

  • Inguinal canal abnormalities: Narrow or blocked canal
  • Adhesions: Scar tissue blocking descent
  • Gubernaculum defects: Problems with guiding structure
  • Processus vaginalis: Abnormalities in peritoneal extension

Vascular Issues

  • Short spermatic vessels: Blood vessels too short for descent
  • Vascular anomalies: Abnormal blood vessel development
  • Intrauterine vascular accidents: Damage to testicular blood supply

Prematurity and Low Birth Weight

  • Incomplete development: Testicles may not have had time to descend
  • Higher prevalence: Up to 30% of premature boys affected
  • Gestational age factor: Risk inversely related to gestational age
  • Birth weight correlation: Lower birth weight associated with higher risk

Associated Conditions

  • Disorders of sexual development: Intersex conditions
  • Hypospadias: Abnormal urethral opening
  • Inguinal hernias: Often occur together with cryptorchidism
  • Müllerian duct remnants: Persistent female reproductive structures

Multifactorial Causes

In most cases, cryptorchidism likely results from a combination of:

  • Genetic predisposition
  • Hormonal influences
  • Environmental factors
  • Timing of development
  • Anatomical variations

Unknown Factors

Despite extensive research, the exact cause remains unknown in many cases. This suggests that:

  • Multiple pathways may be involved
  • Gene-environment interactions are important
  • Some causes have not yet been identified
  • Individual susceptibility varies greatly

Risk Factors

Several factors increase the likelihood of cryptorchidism, though the condition can occur in any male infant:

Pregnancy-Related Risk Factors

Gestational Age and Birth Weight

  • Premature birth: Strongest risk factor
    • 30% of boys born before 30 weeks
    • 7-8% of boys born at 32-36 weeks
    • 3-5% of full-term boys
  • Low birth weight: Independent risk factor
    • Increased risk with weight <2500g
    • Higher risk with very low birth weight
  • Small for gestational age: Growth restriction increases risk

Multiple Births

  • Twin pregnancies: 2-3 times higher risk
  • Higher-order multiples: Even greater risk
  • Both twins affected: Risk higher for both if one affected

Maternal Risk Factors

Age and Health

  • Advanced maternal age: Women over 35 have slightly higher risk
  • Maternal diabetes: Both type 1 and gestational diabetes
  • Maternal obesity: BMI >30 increases risk
  • Thyroid disorders: Both hypo- and hyperthyroidism

Pregnancy Complications

  • Preeclampsia: High blood pressure during pregnancy
  • Placental insufficiency: Poor placental function
  • Oligohydramnios: Low amniotic fluid
  • Intrauterine growth restriction: Poor fetal growth

Maternal Exposures

  • Medications:
    • Some pain medications (acetaminophen, NSAIDs)
    • Certain antihypertensive drugs
    • Some anti-epileptic medications
    • Hormone treatments
  • Lifestyle factors:
    • Alcohol consumption
    • Cigarette smoking
    • Illicit drug use
  • Environmental exposures:
    • Pesticides and herbicides
    • Industrial chemicals
    • Endocrine-disrupting chemicals

Genetic Risk Factors

Family History

  • Father with cryptorchidism: 4-6 times higher risk
  • Brother with cryptorchidism: 3-4 times higher risk
  • Maternal grandfather: Some increased risk
  • Multiple affected relatives: Suggests genetic component

Genetic Syndromes

  • Prader-Willi syndrome: 80-90% have cryptorchidism
  • Klinefelter syndrome: High prevalence
  • Down syndrome: Increased risk
  • Kallmann syndrome: Hypogonadotropic hypogonadism
  • Noonan syndrome: Multiple congenital anomalies

Associated Conditions

  • Hypospadias: Abnormal urethral opening
    • 10-15% of boys with severe hypospadias have cryptorchidism
    • May indicate underlying hormonal issues
  • Disorders of sexual development: Intersex conditions
  • Inguinal hernia: Present in 90% of cryptorchidism cases
  • Müllerian duct abnormalities: Persistent female structures

Geographic and Environmental Factors

Geographic Variation

  • Northern latitudes: Higher prevalence in some studies
  • Developed countries: Potentially higher rates
  • Urban vs. rural: Some studies suggest urban areas have higher rates

Seasonal Factors

  • Birth season: Some studies suggest seasonal variation
  • Conception timing: May relate to seasonal exposures
  • Climate factors: Temperature and humidity effects unclear

Socioeconomic Factors

  • Maternal education: Some studies show associations
  • Occupational exposures: Parental occupations with chemical exposure
  • Healthcare access: May affect diagnosis timing
  • Nutrition: Maternal nutritional status may play a role

Other Risk Factors

  • Assisted reproductive technology: IVF and related procedures
  • Previous pregnancy complications: History of stillbirth or pregnancy loss
  • Maternal age at menarche: Early or late onset of menstruation
  • Birth order: Some studies suggest first-born boys at higher risk

Protective Factors

Some factors may reduce risk:

  • Full-term birth: Normal gestational age
  • Normal birth weight: Appropriate for gestational age
  • Singleton pregnancy: Single births vs. multiples
  • Healthy maternal lifestyle: No smoking, drinking, or drug use
  • Good prenatal care: Regular medical monitoring

Diagnosis

Diagnosis of cryptorchidism is primarily based on physical examination, though imaging studies and laboratory tests may be needed in certain cases. Early and accurate diagnosis is important for appropriate treatment planning.

Physical Examination

Initial Assessment

  • Visual inspection: Examining the scrotum for asymmetry or empty appearance
  • Palpation: Feeling for testicles in normal and abnormal locations
  • Optimal conditions: Warm room, relaxed child, gentle examination
  • Multiple positions: Examining standing, sitting, and lying down

Examination Techniques

  • Two-handed technique: One hand blocks inguinal canal while other palpates
  • Soap test: Using soapy hands to reduce friction during palpation
  • Cross-legged sitting: Position that may help relax cremasteric reflex
  • Distraction techniques: Keeping child calm and relaxed

Classification Based on Examination

Palpable Testicles

  • Retractile testicle:
    • Can be manipulated into scrotum
    • Remains in scrotum when released
    • Usually normal and requires observation only
  • Ectopic testicle:
    • Located outside normal path of descent
    • May be in superficial inguinal, femoral, or perineal position
    • Requires surgical correction
  • True undescended testicle:
    • Located along normal path but hasn't reached scrotum
    • Cannot be manipulated into scrotum
    • Requires treatment

Non-palpable Testicles

  • Intra-abdominal testicle: Located within abdomen
  • Absent testicle: Congenitally absent or vanished
  • Atrophic testicle: Severely underdeveloped

Age-Specific Considerations

Newborns and Infants

  • Initial examination: At birth and regular check-ups
  • Observation period: Watch for spontaneous descent until 6 months
  • Premature infants: May need longer observation period
  • Documentation: Record findings at each visit

Older Children

  • Cooperation needed: May require patience and distraction
  • Privacy concerns: Age-appropriate examination techniques
  • Comparison studies: May be helpful for borderline cases

Imaging Studies

Ultrasound

  • First-line imaging: Non-invasive and radiation-free
  • Limited accuracy: Only 50-70% accuracy for non-palpable testicles
  • Useful for:
    • Confirming presence of testicle
    • Assessing testicular size and structure
    • Ruling out other abnormalities
  • Limitations:
    • Cannot reliably locate intra-abdominal testicles
    • May miss small or atrophic testicles
    • Operator-dependent accuracy

MRI (Magnetic Resonance Imaging)

  • Higher accuracy: Better than ultrasound for non-palpable testicles
  • No radiation: Safe for children
  • Detailed imaging: Can assess testicular structure and surrounding anatomy
  • Limitations:
    • Expensive and time-consuming
    • May require sedation in young children
    • Still not 100% accurate

CT Scan

  • Rarely used: Due to radiation exposure
  • Limited indications: Only when other methods fail
  • Good for bony structures: May show inguinal canal anatomy

Laboratory Tests

Hormonal Evaluation

Usually reserved for specific situations:

  • Bilateral non-palpable testicles: To assess testicular function
  • Associated abnormalities: When other genital abnormalities present
  • Suspected hormone deficiency: Clinical signs of hypogonadism

Specific Tests

  • hCG stimulation test:
    • Measures testosterone response to hCG injection
    • Helps determine if testicles are present and functional
    • Used when both testicles are non-palpable
  • Anti-Müllerian Hormone (AMH):
    • Produced by testicular Sertoli cells
    • Indicates presence of testicular tissue
    • Useful in very young children
  • Inhibin B:
    • Another marker of Sertoli cell function
    • May complement AMH testing
  • LH and FSH:
    • Pituitary hormones that stimulate testicles
    • May be elevated if testicles absent or non-functional

Genetic Testing

Considered in specific situations:

  • Associated abnormalities: Other congenital anomalies present
  • Family history: Multiple affected family members
  • Disorders of sexual development: Ambiguous genitalia
  • Syndromic features: Other signs suggesting genetic syndrome

Surgical Exploration

Diagnostic Laparoscopy

  • Gold standard: For non-palpable testicles
  • Minimally invasive: Small incisions with camera
  • Definitive diagnosis: Can definitively locate or rule out testicle
  • Therapeutic potential: Can proceed to treatment if testicle found

Inguinal Exploration

  • Open surgical approach: Through inguinal incision
  • For palpable testicles: When location unclear
  • Combined approach: Often combined with corrective surgery

Differential Diagnosis

  • Retractile testicle: Normal variant requiring observation
  • Vanishing testicle syndrome: Testicle present in utero but disappeared
  • Ectopic testicle: Located in abnormal position
  • Congenital absence: Testicle never developed
  • Atrophic testicle: Severely underdeveloped testicle

Documentation and Follow-up

  • Detailed records: Document location, size, and consistency
  • Serial examinations: Track changes over time
  • Photography: May be helpful for documentation (with appropriate consent)
  • Referral timing: Appropriate timing for specialist consultation

Treatment Options

Treatment of cryptorchidism aims to place the testicle in the scrotum to optimize fertility, reduce cancer risk, prevent complications, and address cosmetic concerns. The approach depends on the child's age, testicle location, and associated conditions.

Observation

When Observation is Appropriate

  • Newborns and young infants: Up to 6 months of age
  • Retractile testicles: Normal variant requiring monitoring
  • Premature infants: May need longer observation period
  • Recent descent: Testicle that recently moved to better position

Monitoring During Observation

  • Regular examinations: Every 3-6 months
  • Documentation: Record testicle position and size
  • Growth assessment: Monitor testicular development
  • Decision point: Intervention if no descent by 6-12 months

Hormonal Therapy

hCG (Human Chorionic Gonadotropin)

  • Mechanism: Stimulates testosterone production
  • Protocol:
    • 500-1000 IU intramuscularly
    • Twice weekly for 3-5 weeks
    • Total of 6-10 injections
  • Success rate: 10-20% overall success
  • Best candidates:
    • Testicles close to scrotum
    • Bilateral cryptorchidism
    • Ages 6 months to 2 years

GnRH (Gonadotropin-Releasing Hormone)

  • Nasal spray formulation: Easier administration
  • Protocol: 1.2 mg daily for 4 weeks
  • Success rate: Similar to hCG
  • Advantages: Non-invasive, no injections

Limitations of Hormonal Therapy

  • Low success rates: Most cases still require surgery
  • Side effects:
    • Temporary penile growth
    • Pubic hair development
    • Aggressive behavior
    • Acne
  • Relapse risk: Testicle may re-ascend after treatment
  • Delayed surgery: May complicate later surgical intervention

Surgical Treatment

Orchidopexy

The gold standard treatment for cryptorchidism:

  • Timing:
    • Optimal age: 6-18 months
    • Can be performed up to adulthood if needed
    • Earlier intervention preferred for fertility preservation
  • Goals:
    • Place testicle in dependent part of scrotum
    • Ensure adequate blood supply
    • Prevent re-ascent
    • Repair associated inguinal hernia

Types of Orchidopexy

Standard Inguinal Orchidopexy
  • Indications: Palpable testicles in inguinal canal
  • Technique:
    • Inguinal incision
    • Mobilization of testicle and spermatic cord
    • Division of processus vaginalis
    • Creation of scrotal pouch
    • Fixation of testicle in scrotum
  • Success rate: 95-98%
  • Complications: <2% major complications
Laparoscopic Orchidopexy
  • Indications: Non-palpable testicles
  • Advantages:
    • Excellent visualization
    • Minimal invasive approach
    • Shorter recovery time
    • Better cosmetic results
  • Techniques:
    • Single-stage laparoscopic orchidopexy
    • Two-stage Fowler-Stephens procedure
Fowler-Stephens Orchidopexy
  • Indications: High intra-abdominal testicles
  • Technique:
    • Division of testicular vessels
    • Reliance on collateral blood supply
    • Can be single or two-stage procedure
  • Success rate: 80-90%
  • Risk: Testicular atrophy in 5-10% of cases

Orchiectomy (Testicle Removal)

Indications

  • Atrophic testicle: Non-functional, very small testicle
  • Failed orchidopexy: Testicle that becomes atrophic after surgery
  • Adult presentation: In some cases of adult cryptorchidism
  • Malignant transformation: If cancer develops

Considerations

  • Prosthetic implant: Can be placed for cosmetic purposes
  • Psychological impact: Counseling may be needed
  • Fertility considerations: Impact on future fertility
  • Cancer surveillance: Ongoing monitoring still needed

Treatment by Age Group

Infants (0-6 months)

  • Primary approach: Observation
  • Monitor for: Spontaneous descent
  • Plan for: Intervention if no descent by 6 months

Toddlers (6 months - 2 years)

  • Optimal treatment window: Best time for orchidopexy
  • Consider: Hormonal therapy in select cases
  • Surgical approach: Standard orchidopexy usually successful

Children (2-12 years)

  • Primary treatment: Surgical orchidopexy
  • Avoid: Hormonal therapy (less effective, more side effects)
  • Consider: Psychological preparation for surgery

Adolescents and Adults

  • Individual assessment: Consider cancer risk vs. surgical risks
  • Options:
    • Orchidopexy if testicle appears healthy
    • Orchiectomy if testicle atrophic or high cancer risk
    • Observation with regular screening
  • Counseling: Fertility and cancer risk discussion

Postoperative Care

Immediate Postoperative Period

  • Pain management: Age-appropriate pain control
  • Activity restrictions: No strenuous activity for 2-4 weeks
  • Wound care: Keep incision clean and dry
  • Follow-up: First visit within 1-2 weeks

Long-term Follow-up

  • Testicle position: Ensure testicle remains in scrotum
  • Growth assessment: Monitor testicular development
  • Cancer surveillance: Self-examination education
  • Fertility counseling: Discussion about future fertility

Complications and Outcomes

Surgical Complications

  • Testicular atrophy: 1-5% of cases
  • Re-ascent: 1-3% of cases
  • Infection: <1% of cases
  • Bleeding: Rare
  • Vas deferens injury: <1% of cases

Long-term Outcomes

  • Fertility rates:
    • Unilateral: 90-95% normal fertility
    • Bilateral: 60-70% normal fertility
  • Cancer risk: Reduced but not eliminated
  • Cosmetic results: Generally excellent
  • Psychological outcomes: Usually very positive

Prevention

Since cryptorchidism is a congenital condition that occurs during fetal development, complete prevention isn't possible. However, some strategies may help reduce the risk:

Preconception and Early Pregnancy

  • Prenatal care: Early and regular prenatal visits
  • Folic acid supplementation: 400-800 mcg daily before conception and during pregnancy
  • Healthy lifestyle: Maintain optimal health before pregnancy
  • Genetic counseling: If family history of cryptorchidism or related conditions

Maternal Health During Pregnancy

Lifestyle Modifications

  • Avoid smoking: Quit smoking before conception and during pregnancy
  • Limit alcohol: Avoid alcohol completely during pregnancy
  • Avoid illicit drugs: Abstain from recreational drug use
  • Maintain healthy weight: Achieve normal BMI before pregnancy
  • Regular exercise: Appropriate physical activity during pregnancy

Nutritional Factors

  • Balanced diet: Adequate nutrition throughout pregnancy
  • Prenatal vitamins: Take recommended supplements
  • Avoid excess vitamin A: High doses may be harmful
  • Omega-3 fatty acids: May support normal development

Environmental Exposures

Chemical Avoidance

  • Endocrine disruptors: Limit exposure to:
    • Phthalates (plastics, cosmetics)
    • Bisphenol A (BPA) (canned foods, plastics)
    • Pesticides and herbicides
    • Heavy metals (lead, mercury)
  • Occupational hazards: Avoid workplace chemical exposures
  • Household products: Use safer cleaning and personal care products

Practical Steps

  • Food safety:
    • Wash fruits and vegetables thoroughly
    • Choose organic when possible for high-pesticide foods
    • Avoid plastic containers for hot food/drinks
    • Use glass or stainless steel water bottles
  • Home environment:
    • Use fragrance-free products
    • Improve indoor air quality
    • Choose low-VOC paints and furnishings

Medical Management

Medication Safety

  • Consult healthcare providers: Before taking any medications
  • Avoid certain drugs: Some medications may increase risk:
    • Some pain medications (discuss with doctor)
    • Certain blood pressure medications
    • Some anti-epileptic drugs
  • Hormone exposure: Avoid unnecessary hormone treatments

Chronic Conditions

  • Diabetes management: Optimize blood sugar control
  • Thyroid disorders: Maintain normal thyroid function
  • High blood pressure: Control hypertension safely
  • Other conditions: Manage chronic diseases appropriately

Pregnancy Complications Prevention

  • Prevent preterm birth:
    • Regular prenatal care
    • Avoid known risk factors
    • Treat infections promptly
    • Manage chronic conditions
  • Prevent growth restriction:
    • Adequate nutrition
    • Avoid smoking and alcohol
    • Manage maternal health conditions

Family Planning Considerations

Genetic Factors

  • Family history assessment: Evaluate risk based on relatives affected
  • Genetic counseling: Consider if multiple family members affected
  • Reproductive choices: Discuss options with healthcare providers
  • Prenatal testing: May be available for some genetic syndromes

Advanced Maternal Age

  • Optimize health: Before pregnancy after age 35
  • Enhanced monitoring: Closer prenatal surveillance
  • Genetic screening: Consider appropriate testing

Community and Public Health Measures

  • Environmental regulations: Support policies reducing chemical exposures
  • Food safety standards: Advocate for safer food production
  • Healthcare access: Ensure availability of quality prenatal care
  • Education programs: Public awareness about risk factors

Secondary Prevention

Early Detection

  • Newborn screening: Routine examination at birth
  • Regular check-ups: Monitor testicle position in infancy
  • Parent education: Teach parents what to look for
  • Healthcare provider training: Ensure proper examination techniques

Timely Treatment

  • Appropriate referral: To pediatric urologist when indicated
  • Optimal timing: Treatment within recommended age windows
  • Comprehensive care: Address all aspects of the condition

Research and Future Prevention

  • Ongoing studies: Research into causes and prevention
  • Environmental monitoring: Tracking chemical exposures
  • Genetic research: Understanding hereditary factors
  • Treatment improvements: Developing better therapeutic approaches

Limitations of Prevention

It's important to understand that:

  • Not all cases are preventable: Many factors are beyond control
  • Genetic factors: Cannot be modified
  • Unknown causes: Many cases have no identifiable risk factors
  • Risk vs. benefit: Some interventions may have their own risks

When to See a Doctor

Early identification and appropriate management of cryptorchidism are important for optimal outcomes. Here's when medical attention is needed:

Newborns and Infants

At Birth and Early Check-ups

  • Routine screening: Healthcare providers should check testicle position at:
    • Birth examination
    • Newborn hospital discharge
    • First pediatric visit (2-4 days)
    • 2-week check-up
    • 2-month visit
    • 4-month visit
    • 6-month visit
  • Parent concerns: If parents notice empty or asymmetrical scrotum
  • Premature infants: Especially important to monitor

Red Flags in Newborns

  • Both testicles non-palpable: Requires immediate evaluation
  • Ambiguous genitalia: Any concerns about sexual development
  • Associated abnormalities: Other birth defects present
  • Family history: Strong family history of cryptorchidism

Schedule Urgent Evaluation

Emergency Situations

  • Sudden severe pain: In groin, abdomen, or testicle area
    • May indicate testicular torsion
    • Requires immediate emergency care
    • Time-sensitive surgical emergency
  • Swelling and redness: In groin or abdominal area
  • Nausea and vomiting: With groin or abdominal pain
  • Fever: With groin pain or swelling

Urgent but Not Emergency

  • New mass or lump: In groin, abdomen, or scrotum
  • Change in size: Noticeable increase or decrease in testicle size
  • Color changes: Blue, purple, or very red appearance
  • Persistent pain: Ongoing discomfort in affected area

Routine Consultation

Age-Specific Guidelines

  • 6 months of age: If testicle hasn't descended by this age
    • Refer to pediatric urologist
    • Unlikely to descend spontaneously after this age
    • Treatment planning needed
  • 1-2 years: Optimal time for surgical intervention
  • School age: If condition wasn't treated earlier
  • Adolescence: For psychological or cosmetic concerns

Parent Observations

  • Empty scrotum: One or both sides appear empty
  • Asymmetry: One side different from the other
  • Intermittent presence: Testicle sometimes present, sometimes not
  • Questions about development: Concerns about normal growth

Specialist Referral Indications

Pediatric Urology Referral

  • Confirmed cryptorchidism: After 6 months of age
  • Non-palpable testicles: Cannot feel testicle on examination
  • Bilateral involvement: Both testicles affected
  • Associated abnormalities: Other genital or urinary tract issues
  • Retractile testicle concerns: If unsure about diagnosis

Pediatric Endocrinology Referral

  • Hormonal concerns: Signs of hormone deficiency
  • Associated disorders: Other endocrine abnormalities
  • Bilateral non-palpable testicles: May indicate hormonal issues
  • Delayed puberty: When age-appropriate

Follow-up Care

Post-Treatment Monitoring

  • After surgery: Regular follow-up to ensure:
    • Testicle remains in proper position
    • Normal growth and development
    • No complications
    • Wound healing progresses normally
  • Long-term surveillance:
    • Annual examination during childhood
    • Education about self-examination
    • Fertility counseling when appropriate
    • Cancer risk awareness

Transitioning to Adult Care

  • Adolescent preparation: Education about:
    • Self-examination techniques
    • Cancer risk awareness
    • Fertility implications
    • When to seek medical care
  • Adult care transition: Around age 18-21
  • Ongoing monitoring: Regular self-examination and medical follow-up

Questions to Ask Healthcare Providers

Diagnostic Questions

  • Is this definitely cryptorchidism or could it be retractile?
  • Where exactly is the testicle located?
  • Are both testicles affected?
  • What tests are needed to confirm the diagnosis?
  • Are there any associated abnormalities?

Treatment Questions

  • What are the treatment options?
  • When is the best time for treatment?
  • What are the risks and benefits of surgery?
  • How successful is treatment?
  • What are the potential complications?

Long-term Questions

  • How will this affect my child's fertility?
  • Is there an increased cancer risk?
  • What follow-up care is needed?
  • When should my child learn self-examination?
  • Are there any activity restrictions?

Preparation for Medical Visits

  • Medical history: Gather information about:
    • Pregnancy and birth details
    • Family history of cryptorchidism
    • Previous examinations and findings
    • Any symptoms or concerns
  • Questions list: Write down concerns and questions
  • Support person: Bring someone for emotional support
  • Comfort items: For young children during examination

Frequently Asked Questions

Will my son's testicle descend on its own?

Testicles may descend spontaneously in the first 6 months of life, especially in premature babies. However, if the testicle hasn't descended by 6 months of age, spontaneous descent is very unlikely. The earlier the testicle is brought down to the scrotum, the better the long-term outcomes for fertility and cancer prevention.

When is the best time for surgery?

The optimal time for orchidopexy is between 6-18 months of age. Surgery performed during this window provides the best chance for normal fertility and reduces cancer risk. Earlier treatment is preferred, but surgery can be performed successfully at any age if the testicle is healthy.

Will this affect my son's fertility?

Men with a history of unilateral (one-sided) cryptorchidism typically have normal fertility rates of 90-95%. Those with bilateral cryptorchidism may have reduced fertility (60-70% normal fertility rates), but early treatment significantly improves outcomes. Most men with properly treated cryptorchidism can father children naturally.

Does cryptorchidism increase cancer risk?

Yes, undescended testicles have a 10-40 times higher risk of developing testicular cancer. However, orchidopexy reduces this risk, and testicular cancer remains relatively rare overall. The most important thing is learning self-examination and having regular check-ups to detect any problems early.

Is cryptorchidism hereditary?

There is a genetic component to cryptorchidism. If a father had cryptorchidism, sons have a 4-6 times higher risk. If a brother was affected, the risk is 3-4 times higher. However, most boys with cryptorchidism have no family history of the condition, so other factors are also important.

What's the difference between cryptorchidism and retractile testicle?

A retractile testicle can be manually brought down into the scrotum and stays there when released, while a truly undescended testicle cannot be manipulated into the scrotum. Retractile testicles are usually normal and just require monitoring, while cryptorchidism requires treatment. Sometimes the distinction can be difficult and requires expert evaluation.

How successful is cryptorchidism surgery?

Orchidopexy surgery is highly successful, with success rates of 95-98% for palpable testicles and 80-90% for non-palpable testicles. Complications are rare, occurring in less than 2% of cases. Most children recover quickly and can return to normal activities within a few weeks.

Medical Disclaimer: This information is for educational purposes only and should not replace professional medical advice. Cryptorchidism requires proper medical evaluation and treatment. Always consult with a qualified healthcare provider or pediatric urologist for diagnosis and treatment decisions regarding undescended testicles.

References

  1. Kolon TF, Herndon CDA, Baker LA, et al. Evaluation and treatment of cryptorchidism: AUA guideline. J Urol. 2023.
  2. Radmayr C, Dogan HS, Hoebeke P, et al. EAU Guidelines on Paediatric Urology. European Association of Urology. 2023.
  3. Hutson JM, Balic A, Nation T, Southwell B. Cryptorchidism. Semin Pediatr Surg. 2023.
  4. Leslie SW, Sajjad H, Villanueva CA. Cryptorchidism. StatPearls. 2023.
  5. Virtanen HE, Toppari J. Epidemiology and pathogenesis of cryptorchidism. Hum Reprod Update. 2023.