Undescended Testis in Children
Introduction to Undescended Testis in Children
Undescended testis, also known as cryptorchidism, is a common congenital anomaly in which one or both testes fail to descend into the scrotum by birth or within the first few months of life.
Epidemiology
- Incidence: 3-5% in full-term newborns, up to 30% in premature infants
- Bilateral in 10-20% of cases
- Spontaneous descent occurs in many cases within the first 3-6 months of life
- By 1 year of age, incidence decreases to 1%
Normal Testicular Descent
Testicular descent occurs in two phases:
- Transabdominal phase: 8-15 weeks gestation
- Inguinoscrotal phase: 25-35 weeks gestation
Classification
- Palpable testes: 80% of cases
- Non-palpable testes: 20% of cases
Etiology of Undescended Testis
The exact cause of cryptorchidism is often multifactorial and not fully understood. Several factors contribute to its development:
Hormonal Factors
- Inadequate hypothalamic-pituitary-gonadal axis function
- Insufficient testosterone or anti-Müllerian hormone production
- Androgen receptor defects
Genetic Factors
- Associated with various syndromes (e.g., Klinefelter, Prader-Willi)
- Mutations in INSL3 gene or its receptor RXFP2
Mechanical Factors
- Defects in gubernaculum development or function
- Abdominal wall defects
- Inguinal hernia
Environmental Factors
- Maternal exposure to endocrine disruptors
- Intrauterine growth restriction
- Maternal smoking or alcohol consumption during pregnancy
Diagnosis of Undescended Testis
Diagnosis of undescended testis is primarily clinical, based on physical examination and history.
Clinical Assessment
- History: Gestational age, birth weight, family history
- Physical examination:
- Performed in warm environment with relaxed patient
- Assess for presence of testes in scrotum, inguinal canal, and abdomen
- Differentiate from retractile testis
Imaging Studies
- Ultrasonography:
- Limited utility in diagnosis
- May be helpful in locating non-palpable testes
- MRI: May be used for non-palpable testes, but not routinely recommended
Hormonal Evaluation
- Not routinely performed for unilateral cases
- Consider in bilateral cases or suspicion of endocrine disorders:
- FSH, LH, Testosterone levels
- hCG stimulation test
Diagnostic Laparoscopy
Gold standard for diagnosis and management of non-palpable testes
Management of Undescended Testis
The primary goal of treatment is to bring the testis into a normal scrotal position to preserve fertility and reduce the risk of malignancy.
Timing of Intervention
- Current recommendations: surgical correction between 6-18 months of age
- Earlier intervention associated with better outcomes
Hormonal Therapy
- GnRH analogs or hCG:
- Limited success rate (15-20%)
- May be used in selected cases or as adjunct to surgery
Surgical Management
- Orchiopexy: Standard surgical approach
- Open inguinal approach for palpable testes
- Success rate: 70-90%
- Laparoscopic approach: For non-palpable testes
- Diagnostic and potentially therapeutic
- May involve one or two-stage Fowler-Stephens procedure
Post-operative Care
- Pain management
- Wound care
- Follow-up examinations to assess testicular position and growth
Complications of Undescended Testis
Untreated or delayed treatment of undescended testis can lead to several complications:
Fertility Issues
- Impaired spermatogenesis due to higher testicular temperature
- Bilateral cases have higher risk of infertility
- Earlier treatment associated with better fertility outcomes
Testicular Cancer
- 4-10 times increased risk compared to general population
- Most common type: seminoma
- Risk remains elevated even after orchiopexy
Testicular Torsion
- Higher incidence in undescended testes
- Can lead to testicular loss if not promptly treated
Psychological Impact
- Body image concerns
- Potential psychological distress, especially in older children
Inguinal Hernia
- Associated with patent processus vaginalis
- Higher incidence in children with undescended testis
Further Reading
- Evaluation and Treatment of Cryptorchidism: AUA Guideline - American Urological Association
- Current management of undescended testes - Therapeutic Advances in Urology
- Cryptorchidism: a clinical perspective - Pediatric Health, Medicine and Therapeutics
- Management of undescended testes: European Association of Urology/European Society for Paediatric Urology Guidelines - Nature Reviews Urology