Editing Undescended Testicle (section)

== Diagnosis and Evaluation ==

=== History and Physical Exam ===

==== History ====
* '''<span style="color:#ff0000">History of prior testicular position''' 
**'''Genital exam by an experienced healthcare provider with good documentation of testicular position should be conducted in all newborn males.'''
***History provided by the patient's family is least useful to the provider in determining the diagnosis of retractile vs. UDT.

==== Physical Exam ====
* '''<span style="color:#ff0000">Physical exam should focus on the''' 
**'''<span style="color:#ff0000">Inguinal canal'''
**'''<span style="color:#ff0000">Scrotum'''
**'''<span style="color:#ff0000">Ectopic sites (see below)'''
*'''<span style="color:#ff0000">Position: examine child in the supine and, if possible, upright cross-legged and standing positions'''
** '''Abduction of the thighs contributes to inhibition of the cremasteric reflex''', which is elevation of the testis that is elicited by scratching the inner thigh.
* '''<span style="color:#ff0000">Helpful maneuvers to facilitate exam:'''
*#'''<span style="color:#ff0000">Quiet room'''
*#'''<span style="color:#ff0000">Patient distraction'''
*#'''<span style="color:#ff0000">Warm room and hands'''
*#'''<span style="color:#ff0000">Use of lubrication/liquid soap on the examiner’s hands'''
*'''<span style="color:#ff0000">Distinguish between a normally located gonad, retractile testicle, palpable undescended/ectopic testicle, and non-palpable testicle.'''
** '''<span style="color:#ff0000">Assess testicular palpability</span>''', position, mobility, size, and possible associated findings such as hernia, hydrocele, penile size, scrotal asymmetry, and urethral meatus position.
***'''<span style="color:#ff0000">Palpable'''
**** '''<span style="color:#ff0000">Testicle may be:'''
***** '''<span style="color:#ff0000">Anywhere along the line of normal descent between the abdomen and scrotum ("true" undescended)'''
***** '''<span style="color:#ff0000">Ectopic, such as (7):'''
*****# '''<span style="color:#ff0000">Anterior to the rectus abdominus muscle (also called the superficial inguinal pouch)'''
*****#* '''<span style="color:#ff0000">Most common site of ectopic testicle'''
*****# '''<span style="color:#ff0000">Perirenal'''
*****# '''<span style="color:#ff0000">Prepubic'''
*****# '''<span style="color:#ff0000">Femoral'''
*****# '''<span style="color:#ff0000">Peripenile'''
*****# '''<span style="color:#ff0000">Perineal'''
*****# '''<span style="color:#ff0000">Contralateral scrotal position'''
**** '''Careful examination of these areas is needed to correctly classify a testis as palpable or non-palpable,''' a critical step that influences further diagnosis and treatment
**** '''Perirenal or other abdominal testes may be associated with multicystic dysplastic or absent ipsilateral kidneys and/or nonunion of the testis and epididymis'''
**** '''Determine the lowest position the testis may attain'''
***'''<span style="color:#ff0000">Non-palpable'''
****'''<span style="color:#ff0000">Possible clinical findings at surgery include (3):'''
****# '''<span style="color:#ff0000">Abdominal or transinguinal “peeping” location (25-50%)'''
****# '''<span style="color:#ff0000">Complete atrophy (vanishing testis, 15-40%)'''
****# '''<span style="color:#ff0000">Extra-abdominal location but nonpalpable testis because of body habitus, testicular size, and/or limited cooperation of the patient (10-30%)'''
*'''<span style="color:#ff0000">Evaluate contralateral testicle'''
**'''In patients with unilateral cryptorchidism, evaluation of the contralateral gonad is important in order to detect potential problems with the normally located testicle (such as atrophy, varicocele, abnormal volume, or consistency for age).'''
** '''Testicular hypertrophy, most often suspected when the axial length of the testicle is > 1.8‒2 cm),is associated with a higher likelihood of an absent or atrophic non-palpable gonad.'''
*'''<span style="color:#ff0000">Assess for associated abnormalities'''
**'''<span style="color:#ff0000">Inguinal hernia'''
**'''<span style="color:#ff0000">Hypospadias'''
**'''<span style="color:#ff0000">Ipsilateral scrotal hypoplasia'''
* '''<span style="color:#ff0000">CAUTION: A virilized newborn with bilateral non-palpable gonads should be considered to be 46XX with congenital adrenal hyperplasia (CAH) until proven otherwise.'''

=== Labs ===
* '''<span style="color:#ff0000">Karyotype'''
** '''<span style="color:#ff0000">Routine karyotype or genetic workup of patients with UDT is not recommended'''
*** '''The incidence of karyotype or other genetic abnormalities in boys with cryptorchidism is low'''
** '''<span style="color:#ff0000">Indications for karyotype in UDT (2):'''
**# '''<span style="color:#ff0000">Bilateral non-palpable UDT and a normal phallus with an orthotopic urethral meatus'''
**#* '''A phenotypically male newborn with bilateral non-palpable testicles should be considered to be a genetic female with congential adrenal hyperplasia (21-hydroxylase deficiency) until proven otherwise'''
**#** '''If XX karyotype found, obtain 17-hydroxy-progesterone levels (elevated in congential adrenal hyperplasia )'''
**#** '''If XY karyotype found, the diagnosis of bilateral vanishing testicles/testicular regression syndrome (anorchia) should be considered.'''
**#*** '''In such patients, the combination of high gonadotropins, low testosterone levels (even after hCG stimulation), and very low or undetectable levels of anti-Mullerian hormone and inhibin B may preclude any surgical intervention.'''
**#**** '''In most cases, laparoscopic or surgical abdominal exploration is performed [regardless of hormonal levels], although hormone testing can also be useful and may be sufficient for the diagnosis of anorchia.'''
**#**** '''hCG stimulation is no longer the test of choice for anorchia because it is not well standardized and has the potential for side effects and inaccuracy'''
**# '''<span style="color:#ff0000">At least one UDT (particularly if non-palpable) and proximal hypospadias'''
**#* '''≈1/3 of these patients have a DSD'''
**#* '''DSD has not been observed in patients with UDT and distal hypospadias'''
**#* '''Hypospadias is associated with cryptorchidism in 12-24% of cases'''
**#* WT1 mutations have been identified in 7.5% of males with proximal hypospadias and at least one UDT who were tested. '''Targeted WT1 genetic testing in patients with proximal hypospadias and at least one UDT should be considered'''
** '''Routine circumcision should be delayed until evaluation confirms a genetically normal male.'''
* '''If small penile size: testosterone, LH, and FSH levels can facilitate early identification of hormone deficiency or anorchia in the first few months of life and allow early treatment'''
** '''Micropenis''' '''was reported in 46% of boys with anorchia''' '''caused by bilateral vanishing testes'''
** Small penile size associated with cryptorchidism is also observed in '''hypogonadotropic hypogonadism'''
** Contralateral testicular hypertrophy and a palpable scrotal nubbin may present in boys with unilateral vanishing testis and increase serum FSH and micropenis may be seen in boys with bilateral vanishing testes.

=== Imaging ===
* '''Not indicated for diagnosis of the non-palpable testis'''
** '''Has limited accuracy''' (sensitivity and specificity of US in localizing the nonpalpable testis are 45% and 78%, respectively) to confidently rule out the presence of intra-abdominal viable gonadal tissue, '''is not cost-effective, may delay referral and surgical treatment, and does not obviate the need for definitive surgical intervention.'''
**'''Ultrasound evaluation is not a substitute for a well-performed exam''' '''and it does not add diagnostic accuracy to an evaluation by a less experienced healthcare provider or a limited exam due to an uncooperative child.'''
** Imaging studies that require sedation or anesthesia (such as MRI), regardless of the diagnostic performance of the test, do not have any therapeutic value. Thus, under most circumstances, surgical exploration is not avoided and a second anesthetic will be required for treatment.
** The use of imaging modalities that employ ionizing radiation (such as CT scans) should be avoided
** '''Imaging tests may have potential merit solely in directing the best initial approach (e.g. scrotal vs. inguinal vs. laparoscopic exploration).'''

=== Other ===

==== Diagnostic Laparoscopy ====
* '''Diagnostic laparoscopy, followed by laparoscopic orchidopexy if an abdominal testis is present, has become the preferred approach to the non-palpable testis for many clinicians.'''
** '''Laparoscopy is preceded by an examination under anesthesia, which may be a useful adjunct that helps to define the appropriate course of action.'''
*** '''The gold standard for diagnosis ofUDT remains careful examination of a child in several positions and confirmation of incomplete descent of the testis to a dependent scrotal position after induction of anesthesia.'''
**** '''Preoperative testicular position correlates poorly with intraoperative findings'''
** '''Laparoscopy is the procedure of choice to confirm or exclude the presence of a viable or remnant abdominal testis, UNLESS a prominent scrotal nubbin is palpable with other clinical signs of monarchism, such as contralateral testicular hypertrophy (testicular length ≥1.8 cm)''' 
* Important laparoscopic observations include the size and position of the spermatic vessels and vas; testicular size, quality, and position if visible; and patency of the internal inguinal ring.
* '''A hernia is frequently but not always associated with a viable abdominal or distal testis.'''