Cryptorchidism

Background

• Cryptorchidism is defined as an extrascrotal testis or extrascrotal testes due to failure to descend into the scrotum during fetal development or failure to remain in the scrotum after descent. It may also refer to an absent or "vanishing" testis that was present but disappeared during development.
• Cryptorchidism is the most common congenital abnormality affecting genitalia in newborn males, occurring in 1%-4% of full-term male infants, and in 15%-30% of premature male infants.
• There are 2 major subtypes:
  • Congenital cryptorchidism, in which the testis is extrascrotal at birth due to impaired prenatal descent into the scrotum.
  • Acquired cryptorchidism, in which the testis is intrascrotal at birth and subsequently becomes extrascrotal.
• Major risk factors include premature birth and sibling or paternal cryptorchidism.

Evaluation

• Obtain gestational history at initial evaluation of boys with suspected cryptorchidism (Strong recommendation).
• Perform physical exam of genitalia and palpate testes for quality and position (at initial evaluation and at each well-child visit).
  • If a testis is palpable, differentiate between undescended, ascended, and retractile testis.
  • Evaluate the size and position of the contralateral gonad. If hypertrophied, the ipsilateral side may have a vanishing testis (prior torsion before or after birth).
  • If a testis is nonpalpable, physical exam alone cannot confirm or exclude presence of that testis (that is, intra-abdominal or absent/vanishing testis).
  • Do not perform ultrasound or other imaging modalities to evaluate boys with cryptorchidism prior to referral to a specialist (Strong recommendation).
  • Immediately consult a pediatric endocrinologist and pediatric urologist for all phenotypic, male newborns with bilateral, nonpalpable testes. Evaluate for congenital adrenal hyperplasia or other possible disorder of sex development (DSD) (Strong recommendation).
    • Closely monitor electrolytes, especially in patients suspected of congenital adrenal hyperplasia (with potential for salt-wasting phenotype leading to dehydration).
    • Obtain karyotype (potential genetic female, 46 XX) and hormonal profile, including 17-hydroxyprogesterone levels, follicle-stimulating hormone (FSH), luteinizing hormone (LH), testosterone, dihydrotestosterone, and androstenedione.
  • In boys with bilateral nonpalpable testes who do not have congenital adrenal hyperplasia, measure serum müllerian inhibiting substance levels (MIS, also called antimüllerian hormone [AMH]), and consider evaluating other hormone levels, including inhibin B, FSH, LH, and testosterone to distinguish between bilateral anorchia and bilateral abdominal testes (Weak recommendation).
  • Consider DSD in boys with unilateral or bilateral nonpalpable testes and other genital anomalies such as micropenis or hypospadias (especially with increasing severity) (Weak recommendation).
  • If DSD is excluded and nonpalpable testis presents or persists at age 6 months (corrected for gestational age), consult a surgical specialist to confirm diagnosis with palpation under anesthesia at time of corrective surgery (Strong recommendation).

Management

• Do not use hormonal therapy as standard treatment to induce testicular descent. Patients should be evaluated on an individual basis (Strong recommendation). Consider in children with bilateral undescended testicle (Weak recommendation)
• If cryptorchidism is confirmed in an infant, a surgical specialist should perform corrective surgery (orchiopexy) at age 6-18 months in order to maximize future fertility (Strong recommendation).
• If a testis is nonpalpable under anesthesia, a surgical specialist should confirm with diagnostic laparoscopy (preferred option), or with open surgical exploration (Strong recommendation).
  • If a testis is found during surgical exploration, perform orchiopexy (Strong recommendation).
  • If a testis is not found during surgical exploration, evaluate testicular vessels.
    • If vessels are blind-ending, assume that the testis underwent involution due to vascular event during descent (vanishing testis), and no further exploration is indicated.
    • If vessels enter internal inguinal ring or if a scrotal nubbin is palpable (potential vanishing testis), consider inguinal or scrotal exploration. Send a specimen to pathologist to confirm vanishing testis and rule out malignancy (Weak recommendation).
• Perform scrotal or inguinal orchiopexy in prepubertal boys with a cryptorchid, palpable testis (Strong recommendation).
• Perform abdominal orchiopexy (laparoscopic or open) in prepubertal boys with a nonpalpable intra-abdominal testis if diagnosed during surgical exploration (Strong recommendation).
• Consider orchiectomy (Weak recommendation):
  • in boys ≥ 10 years old with an intra-abdominal testis and a normal contralateral testis to reduce potential risk of testicular cancer; germ cells are unlikely to be viable in an intra-abdominal testis by this age
  • if the contralateral testis is normal and the undescended testis is dysmorphic, very hypoplastic, or has very short testicular vessels and vas deferens
• Post surgery, teach testicular self-examination of both testes to monitor for testicular cancer, beginning at puberty. For boys with a single remaining testis, emphasize the need to wear protective gear during sporting activities.
• In boys with retractile testes, close follow-up with annual exam is recommended until puberty due to potential for testicular ascent (Strong recommendation).