Cryptorchidism

Descriptive text is not available for this image Basics

Description

  • Incomplete or improper descent of one or both testicles; also called undescended testes (1)
  • Normally descent is in month 7 to 8 of gestation. The cryptorchid testis may be palpable or nonpalpable.
  • Can be congenital or acquired
  • Types of cryptorchidism
    • Prescrotal: at or above scrotal inlet
    • Abdominal: testis located inside the internal inguinal ring
    • Canalicular: testis located between the internal and external inguinal rings
    • Ectopic: located outside the normal path of testicular descent; 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 due to scar tissue after inguinal surgery.
    • Also may be referred to as palpable versus nonpalpable (1)
  • System(s) affected: reproductive
  • Synonym(s): undescended testes (UDT)

Epidemiology

Incidence

Predominant age: newborn, more common in premature newborns

Prevalence

  • In the United States, cryptorchidism occurs in 1–3% of full-term newborn males and 15–30% of premature newborn males (2).
  • Spontaneous testicular descent occurs by age 1 to 3 months in 50–70% of full-term males.
  • Descent at 6 to 9 months of age is rare (1).

Etiology and Pathophysiology

  • Not fully understood, 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 [MIS]), and neural factors (ilioinguinal nerve and genitofemoral nerve)
    • Insulin-like growth factor 3 (IGF-3) or androgen receptor gene (1)
    • Environmental factors acting as endocrine disruptors
  • Major regulators of testicular descent are the Leydig cell–derived hormones, testosterone, and IGF-3.
  • Risk of ascent as high as 32% in retractile testis

Genetics

Increased risk of UDT in first-degree relatives suggests a genetic etiology.

Risk Factors

  • Family history: highest risk if brother had UDT, followed by uncle and then father
  • Low birth weight, prematurity, and small for gestational age (1)
  • Retractile testes are at increased risk for ascent.
  • Maternal smoking and diabetes during gestation

Commonly Associated Conditions

  • Anatomic anomalies: inguinal hernia/hydrocele, abnormalities of vas deferens and epididymis, hypospadias, meningomyelocele
  • Endocrine disorders: intersex abnormalities, hypogonadotropic hypogonadism, germinal cell aplasia
  • Genetic disorders: Prune-belly syndrome, Prader-Willi syndrome, Kallmann syndrome, cystic fibrosis
  • Wilms tumor

Descriptive text is not available for this image Diagnosis

History

≥1 testicles in a site other than the scrotum

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 intra-abdominal or atrophic testis.
  • An enlarged contralateral testis in the presence of a nonpalpable testis suggests testicular atrophy/absence.
  • Testes should be palpated for quality and position at each recommended well-child visit (1)[B].

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 to 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.

Diagnostic Tests & Interpretation

Initial Tests (lab, imaging)

  • If only single testis not palpable in an otherwise normal male, no need for lab tests or imaging
  • In phenotypic male newborn with bilateral, nonpalpable UDTs, hormone levels help determine whether the testes are ectopic or absent (1)[A].
    • Luteinizing hormone (LH), follicle-stimulating hormone (FSH), MIS, testosterone, serum electrolytes, karyotype
  • If bilateral nonpalpable testes presents at >3 months of age, evaluate for disorders of sexual development (3) and evaluate for congenital adrenal hyperplasia.
  • Ultrasound or other imaging should not delay referral to a specialist, as they are rarely needed in decision-making (1)[B].

Follow-Up Tests & Special Considerations

In infants <6 months of age, periodic examination to determine if testis becomes palpable prior to further intervention (1)Pediatric Considerations

Without spontaneous testicular descent by 6 months, (gestational age adjusted) infant should be referred to urology, and surgery should be performed within 1 year (1)[B].
  • In children with retractile testes, yearly examinations to rule out subsequent ascent (1)[B]

Diagnostic Procedures/Other

Laparoscopy can confirm presence or absence of testis when nonpalpable and determine the feasibility of performing a standard orchidopexy.

Test Interpretation

Higher incidence of carcinoma in UDT and alterations in spermatogenesis. Histologic changes occur by 1.5 years of age (4).

Descriptive text is not available for this image Treatment

General Measures

  • Rule out retractile testis.
  • American Urological Association (AUA) guidelines on cryptorchidism do not recommend use of hormonal therapy to induce testicular descent due to low response rate and lack of evidence for long-term efficacy (1).

Medication

Medical therapy is not indicated in the United States per the AUA guidelines on cryptorchidism 2014 (1).

Issues for Referral

  • ≥1 testes not descended by 6 months age (1)[B]
  • Bilateral nonpalpable UDTs (1)
  • Newly diagnosed cryptorchidism after 6 months of age (1)[B]

Surgery/Other Procedures

  • Benefits: avoids torsion, averts trauma, decreases but does not eliminate risk of malignancy, and prevents further alterations in spermatogenesis
  • If no spontaneous testicular descent by 6 months of age (gestational age–adjusted), surgery should be performed within 1 year (1)[B].
  • Prepubertal orchidopexy decreases risk of testicular cancer (1).
  • Laparoscopy/abdominal exploration is performed first if testis is nonpalpable.
  • If palpable, an inguinal approach is usually performed. If low lying, a single-incision scrotal approach can also be considered but may increase the risk of hernia.

Descriptive text is not available for this image Ongoing Care

Follow-up Recommendations

  • Initial follow-up within 1 month of surgery and periodically thereafter to assess testicular size/growth
  • Patients with retractile testes should be examined at least annually to monitor for secondary ascent until testis is no longer retractile (1)[B].

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.

Diet

No restrictions

Patient Education

Discuss with parents about causes, treatments, patient’s reproductive potential, and increased risk for testicular cancer.

Prognosis

  • Disorder is usually corrected with surgical therapy.
  • 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

  • Paternity rates are similar to the general population for men with a unilateral UDT; however, are lower (33–65%) for men with bilateral UDT
  • Abnormalities also have been identified in the contralateral descended testis, suggesting that unilateral cryptorchidism is a bilateral disease.

Authors

Pamela Ellsworth, MD

References

  1. Kolon TF, Herndon CDA, Baker LA, et al. Evaluation and treatment of cryptorchidism. https://www.auanet.org/education/guidelines/cryptorchidism.cfm. Accessed October 3, 2017.
  2. Sijstermans K, Hack WW, Meijer RW, et al. The frequency of undescended testis from birth to adulthood: a review. Int J Androl. 2008;31(1):1–11.  [PMID:17488243]
  3. Docimo SG, Silver RI, Cromie W. The undescended testicle: diagnosis and management. Am Fam Physician. 2000;62(9):2037–2044, 2047–2048.  [PMID:11087186]
  4. Park KH, Lee JH, Han JJ, et al. Histological evidences suggest recommending orchiopexy within the first year of life for children with unilateral inguinal cryptorchid testis. Int J Urol. 2007;14(7):616–621.  [PMID:17645605]

Additional Reading

  • Fantasia J, Aidlen J, Lathrop W, et al. Undescended testes: a clinical and surgical review. Urol Nurs. 2015;35(3):117–126.  [PMID:26298946]
  • Saylors S, Oyentunji TA. Management of undescended testis. Curr Opin Pediatr. 2024;36(5):554–561.  [PMID:39254759]

Descriptive text is not available for this image Codes

ICD-10

  • Q53.9 Undescended testicle, unspecified
  • Q53.10 Unspecified undescended testicle, unilateral
  • Q53.20 Undescended testicle, unspecified, bilateral
  • Q53.11 Abdominal testis, unilateral
  • Q53.21 Abdominal testis, bilateral
  • Q53.22 Ectopic perineal testis, bilateral
  • Q53.12 Ectopic perineal testis, unilateral

SNOMED

  • 204878001 Undescended testicle (disorder)
  • 268228006 Undescended testes - bilateral
  • 431781000124107 Bilateral intra-abdominal testes (disorder)
  • 438401000124104 Palpable undescended testicle (disorder)

Clinical Pearls

  • If testicular descent does not occur by 6 months of age, it is unlikely to occur. Refer to urologist at 6 months.
  • Children with bilateral, nonpalpable UDTs require laboratory evaluation to determine if viable testicular tissue is present and to rule out disorder of sexual differentiation.
  • Radiologic imaging has no role in the initial evaluation of cryptorchidism.
  • The risk of infertility is increased with bilateral UDTs.

Last Updated: 2027

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