Editing CUA: Cryptorchidism (2017) (section)

== Diagnosis and Evaluation ==

* '''Physical exam'''
** '''Genital exam by an experienced healthcare provider with good documentation of testicular position should be conducted in all newborn males. In addition, the presence of associated genitourinary abnormalities (such as hypospadias and inguinal hernia) and ipsilateral scrotal hypoplasia should be assessed.'''
*** '''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.'''
*** '''A virilized newborn with bilateral non-palpable gonads should be considered to be 46XX with congenital adrenal hyperplasia (CAH) until proven otherwise.'''
** '''Distinguish between a normally located gonad, retractile testicle, palpable undescended/ectopic testicle, and non-palpable testicle. Associated conditions, such as an inguinal hernia, are concomitantly evaluated. The exam should be performed in a quiet, warm environment, assisted with lubrication if needed, and focus on the inguinal canal and scrotum, along with less common ectopic sites (perineal, femoral, prepubic).'''
** '''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).'''
** '''The presence of 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.'''
* '''Imaging studies (no role)'''
** '''Imaging in cryptorchidism is not cost-effective, may delay referral and surgical treatment, and as such cannot be recommended as a standard adjunct to preoperative assessment of these children'''
*** 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
*** None of the currently available imaging modalities have sufficient reproducible diagnostic accuracy to confidently rule out the presence of intra-abdominal viable gonadal tissue. Thus, ultimately, in most cases surgical exploration is not avoided.
*** '''Imaging tests may have potential merit solely in directing the best initial approach (e.g. scrotal vs. inguinal vs. laparoscopic exploration).'''
* '''Need for investigation for DSD, karyotype, and other biochemical/genetic studies'''
** '''The incidence of karyotype or other genetic abnormalities in boys with cryptorchidism is low;''' '''routine karyotype or genetic workup of patients with UDT is NOT recommended'''
** '''Karyotype is indicated in patients with (2):'''
**# '''Bilateral non-palpable gonads and a normal phallus with an orthotopic urethral meatus; a phenotypically male newborn with bilateral nonpalpable testicles should be considered to be a genetic female with CAH (21-hydroxylase deficiency) until proven otherwise'''
**#* '''If XX karyotype found, obtain 17-hydroxy-progesterone levels (elevated in congenital adrenal hyperplasia)'''
**#* '''If XY karyotype found, the diagnosis of bilateral vanishing testicles or testicular regression syndrome (TRS) should be considered. In such patients, the combination of high gonadotropins, low testosterone levels (even after stimulation), and very low or undetectable levels of anti-Mullerian hormone may preclude any surgical intervention.'''
**# '''At least one undescended testicle (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'''
**** WT1 mutations have been identified in 7.5% boys 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'''
** '''Persistent Mullerian Duct Syndrome (PMDS)'''
*** '''Suggested by the presence of Mullerian structures (uterus, fallopian tube) attached to an undescended testicle (more commonly intra-abdominal)'''
*** '''Usually an intraoperative finding'''
*** '''Rarely, can lead to both testicles occupying the same side of the abdomen (transverse testicular ectopia)'''
*** '''Surgical removal of the Mullerian structures seems logical since malignancies have been reported''' and at times their attachments can hinder the performance of a tension-free orchidopexy.
*** '''When Mullerian remnants are found incidentally during an inguinal orchidopexy, the proximal aspect of the fallopian tube can be transected and removed with the uterus, leaving its distal component attached to the vas deferens, allowing the testis to be brought to a scrotal position''' Such a maneuver avoids separation of the tube from the cord structures, protecting the deferential and testicular blood supply.
*** Patients should have AMH levels checked and be referred to endocrinology/genetics for investigation.
** If a DSD is discovered, patients should be followed in a multidisciplinary clinic specific to these complex diagnoses.