Cryptorchidism

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Cryptorchidism

Ronald Rabinowitz, MD , William Hulbert, MD , Robert Mevorach, MD

Basic Information

Definition

Cryptorchidism is failure of the testis to completely descend into the scrotum. The term is derived from the Greek words kryptos and orchis, meaning “hidden testis.”

Synonyms

Incompletely descended testis
Undescended testis

ICD-9-CM Code

752.51 Undescended testis

Epidemiology & Demographics

• Incidence is related to gestational age because testes descend late in fetal growth.

image Cryptorchidism occurs in up to 30% of preterm infants.
image The incidence is 1 (3%) in 33 term newborns.
image A less than 1% incidence is seen after age 6 months.

• Five percent of cases are nonpalpable.
• Distribution is 65% right, 25% left, and 10% bilateral.
• Approximately 80% of cases are identified at birth, whereas 20% manifest later in childhood.
• Cryptorchidism is associated with many central nervous system anomalies, including the following:

image Myelomeningocele
image Hydrocephalus
image Anencephaly
image Hypopituitarism

• It is associated with abdominal wall defects such as prune-belly syndrome and gastroschisis.
• The incidence is increased among premature infants and small-for-gestational-age (SGA) infants.
• Increased familial incidence (10% of siblings) is observed.
• There is an increased incidence of testicular malignancy in maldescended testes.
• The risk for impaired fertility is increased for those with undescended testes.
• Increased incidence of cryptorchidism is associated with multiple malformation syndromes, including chromosomal anomalies and single-gene defects.

Clinical Presentation

History

• Cryptorchidism is usually identified on physical examination.
• It is not associated with pain, tenderness, or discomfort in most cases.
• Many malformation syndromes, chromosomal abnormalities, and neurologic defects are associated with maldescended testes, including the following:

image Aarskog syndrome
image de Lange’s syndrome
image Kallmann’s syndrome
image Klinefelter syndrome
image Laurence-Moon-Biedl syndrome
image Noonan-Opitz-Frias syndrome
image Prader-Willi syndrome
image Robinow’s syndrome
image Rubinstein-Taybi syndrome
image Smith-Lemli-Opitz syndrome
image Trisomy 21

Physical Examination

• The following conditions are important during the examination:

image Warm environment
image Relaxed patient in the frog-leg position
image Warm examiner’s hands
image Abdominal examination preceding inguinal-scrotal palpation

• Examine patients carefully, especially those with the risk factors listed in “Epidemiology & Demographics.”
• Examine genitalia for other abnormalities (e.g., hypospadias).

Etiology

• The cause is uncertain, but cryptorchidism probably results from multiple factors, including the following:

image Improper traction of the gubernacular (i.e., fetal cord that attaches to the testis)
image Abnormal intra-abdominal pressure
image Epididymal differentiation and maturation abnormalities
image Improper attachment of gubernaculum testis
image Hormonal impairment (e.g., androgen deficiency, decreased luteinizing hormone–releasing hormone)

• Traumatic dislocation of the testis (e.g., straddle injury) may cause incomplete descent.
• Surgical dislocation of testis (e.g., snagged spermatic cord during hernia repair, surgeon does not position testis correctly) may affect later development and movement.

Diagnosis

Differential Diagnosis

• Ectopic testes (i.e., never descend)
• Retractile testes
• Anorchia (i.e., lack of testes)
• Atrophic testis
• Ambiguous genitalia

image Genetic female with androgen excess
image Genetic male with androgen insensitivity

Workup

• The diagnosis is based on findings of the physical examination.
• Ultrasonography is rarely helpful in localizing the testes.
• Computed tomography can help localize testes and evaluate testes, but it is rarely necessary.

Laboratory Tests

• Endocrine evaluation (i.e., testosterone, dihydrotestosterone, luteinizing hormone [LH], and follicle-stimulating hormone [FSH]) should be performed for patients with bilateral, nonpalpable testes who are chromosomal males.

image Elevated LH and FSH levels with absent or low testosterone levels indicate nonfunctioning or absent testes or an intersex disorder.
image Elevated testosterone levels occur with androgen insensitivity.

• A human chorionic gonadotropin (hCG) stimulation study should be conducted for bilateral, nonpalpable testes; after stimulation, measure testosterone, LH, and FSH levels.

image If the testosterone level is elevated, testes are present.
image If no testosterone is detected and LH and FSH levels are elevated, no functioning testes exist.

• Test inhibin, which may be a more sensitive marker than testosterone.

image This test is not widely available.
image A lack of inhibin indicates no functioning testes.
image Inhibin presence indicates functional testicular tissue.

Imaging Studies

• Ultrasonography is rarely helpful in localizing the testes (less helpful than physical examination).
• Computed tomography can help localize testes, but it is rarely necessary.

Treatment

Nonpharmacologic Therapy

• Open inguinal and abdominal incisions are used to manage most undescended testes.
• Laparoscopy is used in selected instances of older boys with nonpalpable, undescended testes.

Acute General Rx

• Therapeutic hCG stimulation is used for bilateral, nonpalpable testes.

image To bring testes down and potentially avoid surgery
image To stretch cord structure in preparation for surgery

Disposition

• The primary care physician should perform interval physical examinations throughout childhood and puberty.
• Follow pubertal testicular growth for possible atrophy.
• Instruct the patient to conduct monthly testicular self-examinations beginning in teens to look for malignancy.

Referral

• All boys with cryptorchidism should be referred to a pediatric urologist.

image If the patient has bilateral, nonpalpable testes, refer at birth.
image If the patient has unilateral cryptorchidism at birth, refer at 3 to 5 months.
image If the patient has highly retractile or late presentation of cryptorchidism, refer at that time.

• Endocrinologists are usually involved in cases that are complicated by ambiguous genitalia or micropenis to rule out and manage enzyme defects and hormonal deficiencies.

Pearls & Considerations

Comments

• Ultrasound is rarely helpful for this condition.
• Because of the potential for late presentation of cryptorchidism, all boys should have confirmation of testicular location at intervals throughout childhood and puberty.

Patient/Family Education

• Pubertal testicular self-examination
• Pubertal education regarding fertility potential
• Pubertal education regarding malignant potential

Suggested Readings

Bogaert GA, et al. Therapeutic laparoscopy for intra-abdominal testes. Urology. 1993;42:182.

Elder JS. Ultrasonography is unnecessary in evaluating boys with a nonpalpable testis. Pediatrics. 2002;110:748.

Rabinowitz R, Hulbert WC. Late presentation of cryptorchidism: the etiology of testicular re-ascent. J Urol. 1997;157:1892.

Rajfer J, et al. Hormonal therapy of cryptorchidism. N Engl J Med. 1986;314:466.

Scorer CG. The descent of the testis. Arch Dis Child. 1964;39:605.

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