Cryptorchidism – Causes, Symptoms, Diagnosis, Treatment and Ongoing care

Basics

Description

  • Incomplete or improper descent of 1 or both testicles; normally, descent is in the 7th–8th month of gestation. The cryptorchid testis may be palpable or nonpalpable.
  • Types of cryptorchidism:
    • Abdominal: Located inside the internal ring
    • Canalicular: Located between the internal and external rings
    • Ectopic: Located outside the normal path of testicular descent from abdominal cavity to scrotum; may be ectopic to perineum, femoral canal, superficial inguinal pouch (most common), suprapubic area, or opposite hemiscrotum
    • Retractile: Fully descended testis that moves freely between the scrotum and the groin
    • Iatrogenic: Previously descended testis becomes undescended secondary to scar tissue after inguinal surgery, such as an inguinal hernia repair or hydrocelectomy.
    • Also may be referred to as palpable versus nonpalpable
  • System(s) affected: Reproductive
  • Synonym(s): Undescended testes (UDT)

Pediatric Considerations

  • This problem is usually detectable at birth or soon thereafter.
  • If surgery is to be the treatment, it should be performed during the 1st 6–9 months of life (1).
  • Puberty: If unilateral cryptorchidism is discovered at or after puberty, the usual treatment is orchiectomy.

Epidemiology

Incidence

  • Predominant age: Premature newborns
  • Predominant sex: Male only

Prevalence

  • In the US, cryptorchidism occurs in 3% of full-term and 33% of premature newborn males.
  • Spontaneous testicular descent occurs by age 1–3 months in 50–70% of full-term males with cryptorchidism.
  • Descent at 6–9 months of age is rare.

Risk Factors

  • Family history of cryptorchidism: Boys with UDTs: 4% of their fathers and 6.2–9.8% of their brothers have UDTs (23).
  • Low birth weight, prematurity, and small for gestational age are associated with a substantial increase in incidence of cryptorchidism, which may reach 20–25% in infants with birth weight less than 2.5 kg (4).

Genetics

Occurrence of UDT in siblings as well as fathers suggests a genetic etiology.

Etiology

  • Not fully known
  • May involve alterations in
    • Mechanical factors (gubernaculum, length of vas deferens and testicular vessels, groin anatomy, epididymis, cremasteric muscles, and abdominal pressure), hormonal factors (gonadotropin, testosterone, dihydrotestosterone, and müllerian inhibiting substance) and neural factors (ilioinguinal nerve and genitofemoral nerve)
    • Major regulators of testicular descent from intraabdominal location into the bottom of the scrotum are the Leydig cell–derived hormones testosterone and insulin-like growth factor 3 (IGF-3).
    • Mutations in the gene for IGF-3 and in the androgen receptor gene have been recognized as causes of cryptorchidism as well as chromosomal alterations.
    • Environmental factors acting as endocrine disruptors of testicular descent also may contribute to the etiology of cryptorchidism (5).

Commonly Associated Conditions

  • Inguinal hernia/hydrocele
  • Abnormalities of vas deferens and epididymis
  • Intersex abnormalities
  • Hypogonadotropic hypogonadism
  • Germinal cell aplasia
  • Prune-belly syndrome
  • Meningomyelocele
  • Hypospadias
  • Wilms tumor
  • Prader-Willi syndrome
  • Kallman syndrome
  • Cystic fibrosis

Cryptorchidism, Surgery, Testicle, Endocrine Society, inguinal hernia repair, cryptorchid testis, premature newborns, hemiscrotum, suprapubic area, hydrocelectomy,

Diagnosis

History

≥1 testicles in a site other than the scrotum; may be an isolated defect or associated with other congenital anomalies

Physical Exam

  • Performed with warm hands, with child in sitting, standing, and squatting position
  • A Valsalva maneuver and applied pressure to lower abdomen may help to identify the testes, especially a gliding testis.
  • Failure to palpate a testis after repeated exams suggests an intraabdominal or atrophic testis.
  • An enlarged contralateral testis in the presence of a nonpalpable testis suggests testicular atrophy/absence.

Diagnostic Tests & Interpretation

Lab

Initial lab tests

  • In boys ≤3 months of age with bilateral nonpalpable UDTs, luteinizing hormone, follicle-stimulating hormone, and testosterone levels are helpful to determine whether the testes are present.
  • >3 months of age, a human chorionic gonadotropin (hCG) stimulation test to determine presence/absence of testicular tissue (hCG 2,000 IU/d × 3 days, and check testosterone before and after stimulation)

Follow-Up & Special Considerations

In newborns and children <6–12 months of age, periodic examination to determine if testis is palpable and descended prior to considering further intervention

Imaging

Initial approach

  • Ultrasonography has a sensitivity of 76%, a specificity of 100%, and an accuracy of 84% in the diagnosis on nonpalpable UDT, whereas MRI has a sensitivity of 86%, a specificity of 79%, and an accuracy of 85% (6)[C].
  • CT scan findings in children are inconsistent.

Diagnostic Procedures/Surgery

Laparoscopy is useful in a child with nonpalpable cryptorchidism to accurately confirm testicular absence or presence and to determine the feasibility of performing a standard orchiopexy (7)[C].

Pathological Findings

  • Higher incidence of carcinoma in UDT and alterations in spermatogenesis
  • Histologic changes occur by 1.5 years of age and include smaller seminiferous tubules, fewer spermatogonia, and more peritubular tissue.

Differential Diagnosis

  • Retractile testis (hypermobile testis): A normally descended testis that ascends into the inguinal canal because of an active cremasteric reflex (more common in males 4–6 years of age)
  • Atrophic testis: May occur as a result of neonatal torsion
  • Vanished testis may be the result of a lack of development or in utero torsion.

Treatment

Medication

  • The International Health Foundation recommends biweekly hCG injections for 5 weeks: 250 (IU) for infants, 500 IU for children ≤6 years of age, and 1,000 IU for children ≥6 years of age.
  • Success rates for descent into the scrotum range from 0–55% (8)[B].
    • The more distal the testis, the more likely the descent.
    • A systematic review with a meta-analysis of randomized clinical trials concluded that the evidence for the use of hCG versus gonadotropin-releasing hormone (GnRH) shows advantages for hCG but noted that the evidence was based on few trials (9)[B].
  • Contraindications: hCG therapy is contraindicated in patients with a clinically apparent inguinal hernia, those with a history of previous ipsilateral groin surgery, or those with ectopic testicles. Also refer to manufacturer’s literature.
  • Precautions: (1) May induce precocious puberty; discontinue drug; effects should reverse in 4 weeks; (2) premature epiphyseal closure
  • Significant possible interactions: Refer to manufacturer’s literature.
  • GnRH is approved for use in Europe, and neoadjuvant GnRH therapy may improve fertility index in UDT (10)[C].

Additional Treatment

General Measures

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  • Rule out retractile testis.
  • Appropriate health care: Outpatient until surgery performed
  • Administration of chorionic gonadotropin may cause testicular descent in some boys. Reports of efficacy are inconsistent.

Issues for Referral

  • Bilateral nonpalpable UDTs
  • ≥1 testes not descended by 6 months to 1 year of age

Surgery/Other Procedures

  • Reasons to consider: Avoids torsion, averts trauma, decreases but does not eliminate risk of malignancy, and prevents further alterations in spermatogenesis
  • Orchiopexy should be performed by age 1. Alterations in germ cell count in the cryptorchid testis have been identified by age 2.
  • Laparoscopy is performed first if testis is nonpalpable.
  • If palpable, an inguinal approach is usually performed. Prepubertal approach is considered in select situations, but may increase the risk of hernia (11)[C].

Ongoing Care

Follow-Up Recommendations

Initial follow-up within 1 month of surgery and periodically thereafter to assess testicular size/growth

Patient Monitoring

  • Patients should be followed after surgery to evaluate testicular growth.
  • Testicular tumors occur mainly during or after puberty; thus these children should be taught self-examination when they are older.

Diet

No restrictions

Patient Education

Discuss with parents about causes, available treatments, and possible effects on patient’s reproductive potential; also increased risk for testicular cancer and need for regular self-examination.

Prognosis

  • Disorder is usually corrected with medical or surgical therapy; however, possible lifelong consequences.
  • If testicle is absent or orchiectomy is required, may consider placement of testicular prosthesis.
  • Early orchidopexy may decrease risk of testicular damage and risk of malignancy.

Complications

  • Progressive failure of spermatogenesis, if left untreated; even with orchiopexy, the fertility rate is still reduced, especially with bilateral UDTs.
  • Spermatogenesis is related to the duration of cryptorchidism and the location of the testis.
  • Formerly bilaterally cryptorchid men have a greater decrease in fertility compared with unilateral cryptorchid male and the general male population.
  • Abnormalities also have been identified in the contralateral descended testis, although less severe.

Alert

  • There is a 4–7× higher risk of developing testicular cancer in a male with a history of UDT (2)[C], but early orchidopexy appears to decrease the risk of cancer.
  • Hernia development (25%)

References

1. Lee PA. Fertility after cryptorchidism: epidemiology and other outcome studies. Urology. 2005;66:427–31.

2. Cortes D. Cryptorchidism: Aspects of pathogenesis, histology and treatment. Scan J Nephrol. 1998;9:54.

3. Scorer CG, Farrington HG. Congenital Deformities of the Testes and Epididymis. London: Butterworths, 1971.

4. Cryptorchidism: a prospective study of 7500 consecutive male births, 1984–8. John Radcliffe Hospital Cryptorchidism Study Group.Arch Dis Child. 1992;67(7):892–9.

5. Foresta C, Zuccarello D, Garolla A, Ferlin A et al. Role of hormones, genes, and environment in human cryptorchidism.Endocr Rev. 2008;29:560–80.

6. Kanemoto K, Hayashi Y, Kojima Y, et al. Accuracy of ultrasonography and magnetic resonance imaging in the diagnosis of non-palpable testis. Int J Urol. 2005;12:668–72.

7. Patil KK, et al. Laparoscopy for impalpable testis. Br J Urol.2005;95:704–8.

8. Henna MR, Del Nero RG, Sampaio CZ, et al. Hormonal cryptorchidism therapy: systematic review with metanalysis of randomized clinical trials. Pediatr Surg Int. 2004;20:357–9.

9. Henna MR, Del Nero RG, Sampaio CZ, Atallah AN, Schettini ST, Castro AA, Soares BG et al. Hormonal cryptorchidism therapy: systematic review with metanalysis of randomized clinical trials.Pediatr Surg Int. 2004;20:357–9.

10. Schwentner C, Oswald J, Kreczy A, et al. Neoadjuvant gonadotropin-releasing hormone therapy before surgery may improve the fertility index in undescended testes: a prospective randomized trial. J Urol. 2005;173:974–7.

11. Al-Mandil M, Khoury AE, El-Hout Y, Kogon M, Dave S, Farhat WA et al. Potential complications with the prescrotal approach for the palpable undescended testis? A comparison of single prescrotal incision to the traditional inguinal approach. J Urol. 2008;180:686–9.

Additional Reading

Berkowitz GS, Lapinski RH, Dolgin SE, et al. Prevalence and natural history of cryptorchidism. Pediatrics. 1993;92:44–9.

Codes

ICD9

752.51 Undescended testis

Snomed

  • 204878001 Undescended testicle (disorder)
  • 268227001 unilateral undescended testis (situation)
  • 268228006 undescended testes – bilateral (disorder)

Clinical Pearls

  • If testicular descent does not occur by 6–9 months of age, it is unlikely to occur. Therefore, refer patients to a urologist if a testes has not descended by 6 months to 1 year of age.
  • Children with bilateral nonpalpable UDTs require laboratory evaluation to determine if viable testicular tissue is present.
  • The risk of infertility is increased with bilateral UDTs.

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