Editing AUA: Cryptorchidism (2018) (section)

== Diagnosis and Evaluation ==

=== History and Physical Exam ===

==== History ====

* '''<span style="color:#ff0000">Congenital vs. Acquired'''
**Was the testicle previously descended?
*'''<span style="color:#ff0000">Risk factors (see above)'''

==== Physical Exam ====

* '''<span style="color:#ff0000">Genital exam'''
**  '''<span style="color:#ff0000">Ipsilateral gonad'''
***'''<span style="color:#ff0000">Infants should be examined in the supine position with legs gently frog-legged, or sitting on the lap of the parent'''
**** Older children may be examined in the upright cross-legged or supine position
*** '''<span style="color:#ff0000">Apply gentle downward pressure along the inguinal canal from the anterior iliac spine to the scrotum and counter palpation with the opposite hand''' 
****Helps to identify the lowest position of a palpable testis
*** '''If the testis is palpated, gently grasp it with the dominant hand and continue to sweep the testis toward the scrotum with the other hand.''' 
****'''In palpable testes that can be manipulated into the scrotum, it is important to maintain the position of the testis in the scrotum for approximately 30 seconds in order to fatigue the cremaster muscle. This will allow differentiation of a retractile testis from a UDT.''' 
*****'''Release the testis, and if it remains in place, it is a retractile testis.''' 
*****'''If it immediately retracts to a prescrotal position, it is a UDT.'''
*** <span style="color:#ff0000">'''Repeated examinations, patient distraction techniques, a warm environment, and use of a lubricant for the examiner's hands facilitate the physical examination'''
** '''<span style="color:#ff0000">Scrotum'''
***'''A hypoplastic hemiscrotum may imply that the testis is not present.''' 
*** '''A vanishing testis may manifest as a testicular "nubbin," which can be palpated in the scrotum, and is representative of a completely atrophic testis'''
**'''<span style="color:#ff0000">Contralateral gonad'''
***'''Size and location''' should be noted as it may increase the ability to predict the status of the UDT.
**** The presence of compensatory hypertrophy (length > 2 cm in prepubertal young boys) is highly associated with monorchia.
* '''<span style="color:#ff0000">Careful examination of the (5):'''
*# '''<span style="color:#ff0000">Groin'''
*# '''<span style="color:#ff0000">Femoral region'''
*# '''<span style="color:#ff0000">Perineum'''
*# '''<span style="color:#ff0000">Contralateral hemiscrotum (to detect the rare cases of transverse testicular ectopia)'''
*# '''<span style="color:#ff0000">Pubic areas'''
* '''<span style="color:#ff0000">Classify a testis as palpable or nonpalpable'''
** '''<span style="color:#ff0000">Approximately 70% of UDTs are palpable'''
*** For testes that are not palpable, approximately 30% will be found in the inguinal-scrotal area, 55% will be intra-abdominal, and 15% will be absent or vanishing.
** '''<span style="color:#ff0000">Surgical approach is based on the palpability of the UDT'''
** '''<span style="color:#ff0000">If bilateral, nonpalpable testes, consider possible disorder of sex development (DSD)'''
*** '''<span style="color:#ff0000">CAUTION: A newborn with a male phallus and bilateral nonpalpable gonads is potentially a genetic female (46 XX) with congenital adrenal hyperplasia until proven otherwise.''' 
**** Failure to diagnose congenital adrenal hyperplasia can result in serious harm, as a high proportion of patients with this condition are unable to regulate their electrolyte levels and may present with shock, hyponatremia and hyperkalemia.
***** Serum electrolytes should be monitored. 
***** Additionally, karyotype and a hormonal profile (including 17-hydroxyprogesterone levels, LH, FSH, testosterone and androstenedione) must be obtained with simultaneous consultation with a pediatric endocrinologist and a pediatric urologist.
**** '''Circumcision should not be performed until after the workup is complete, even if a completely normal phenotypic penis is documented on examination'''
**** '''<span style="color:#ff0000">The possibility of DSD, or other syndromes should also be entertained when unilateral or bilateral cryptorchidism is present with phallic anomalies, such as hypospadias or micropenis.'''
**** Radiological, genetic and endocrinological evaluations are indicated in cryptorchid males with disorder of sex development, in conjunction with hormone levels discussed in guideline statement 8 below.
*** '''<span style="color:#ff0000">If the infant with bilateral nonpalpable testes has normal penile development or micropenis and 46 XY karyotype, an evaluation to distinguish vanishing testis syndrome (bilateral congenital anorchia (rare)) versus bilateral abdominal testes is warranted.'''
**** '''<span style="color:#ff0000">In order to avoid surgical exploration in the 46 XY male with anorchia, studies to assess for the presence of any viable testicular tissue should include serum MIS and consider additional hormone testing (inhibin B, FSH, LH, and testosterone).'''
***** Within the testis, 
****** Leydig cells respond to endogenous LH or exogenous hCG by producing testosterone 
****** Sertoli cells respond to endogenous FSH by producing MIS and inhibin B. 
***** hCG stimulation
****** The failure of testosterone to increase after hCG stimulation alone is not diagnostic of anorchia; testicular dysgenesis with UDT may fail to respond to hCG stimulation. 
****** If the hCG stimulation test is used, it must be confirmed with a significant elevation in serum FSH and LH.
****** If the patient has anorchia and is less than 12 months of age, serum LH is high, FSH is high, MIS and inhibin B are undetectable, and testosterone is low. In infants with anorchia, the postnatal testosterone surge will be absent.
****** most recent studies suggest that a phenotypic 46 XY male with bilateral nonpalpable testes has isolated anorchia if undetectable levels of MIS and inhibin B with an elevated FSH level are present,155 making neither hCG stimulation testing nor surgical exploration necessary for the diagnosis of isolated anorchia
***** If the endocrine markers of Sertoli and Leydig cell function are normal, then testicular tissue is present despite being not palpable and warrants surgical therapy.

=== Imaging ===

* '''<span style="color:#ff0000">Should not be performed in the evaluation of boys with cryptorchidism prior to referral'''
** In the hands of an experienced provider or specialist, more than 70% of cryptorchid testes are palpable by physical examination and need no imaging.
** US is non-contributory in routine use, with sensitivity and specificity to localize nonpalpable testis at 45% and 78%, respectively.
** The cost and ionizing radiation exposure associated with CT scanning precludes its use. 
** MRI with or without angiography has been more widely used with greater sensitivity and specificity but is deterred by cost, low availability and need for anesthesia.

=== Other ===

==== Diagnostic laparoscopy ====

* '''<span style="color:#ff0000">Gold standard with high sensitivity and specificity'''
* '''Indications'''
** '''All nonpalpable unilateral''' 
** '''Many bilateral cryptorchid patients'''
* '''If a testis is found, the surgery continues and laparoscopic or open orchidopexy is completed, thereby providing diagnosis and therapy simultaneously'''
* '''<span style="color:#ff0000">Technique'''
** '''<span style="color:#ff0000">Goal is to identify testicle'''
***'''<span style="color:#ff0000">Exhaustive search from the level of the kidney to the internal ring'''
***'''<span style="color:#ff0000">If testis identified, decide to proceed with either orchidopexy or orchiectomy'''
****'''<span style="color:#ff0000">Orchiectomy'''
*****'''<span style="color:#ff0000">Situations where orchiectomy may be preferred in the presence of a normal contra-lateral descended testis (4)'''
*****#<span style="color:#ff0000">'''Atretic and/or short vas deferens'''
*****#<span style="color:#ff0000">'''Very short testicular vessels that place the testis high within the retroperitoneum'''
*****#<span style="color:#ff0000">'''Dysmorphic testis'''
*****#<span style="color:#ff0000">'''Testis in a postpubertal male'''
*****If an orchiectomy is performed, then the patient and family should be counseled about the importance of wearing protective gear during sporting activity.
****'''<span style="color:#ff0000">Orchidopexy'''
*****'''See below'''
** '''<span style="color:#ff0000">If no testis is identified, goal is identify the termination of the testicular vessels''' 
***'''<span style="color:#ff0000">Vessels may'''
****'''<span style="color:#ff0000">End blindly within the abdomen'''
*****'''When the vessels end blindly in the retroperitoneum, the surgeon may terminate the procedure or explore distal to the internal ring to confirm the absence of testicular tissue or remove a vanishing testis.'''
****'''<span style="color:#ff0000">Enter the internal ring'''
*****'''If vessels clearly enter the internal inguinal ring, must explore either the inguinal canal or the scrotum, depending on the surgeon's preference.'''
*****'''In cases of vanishing testes that have descended distal to the internal ring, the testicular vessels typically are less robust as they enter the internal ring as compared to the normal descended side.'''
*****After removing vanishing testis or nubbin, specimen should be sent for pathologic confirmation, to confirm a vanishing testis and no presence of malignancy
*** '''The identification of the vas deferens should not guide management as it is of distinct embryologic origin and may not be fused to the testis.'''