Approach
Adolescents with varicocele will typically present to the primary care physician for a routine physical exam. An adult patient with a varicocele is usually asymptomatic and will typically present after failed attempts at conception, seeking an evaluation for infertility. Diagnosis is usually clinical, although radiologic studies such as ultrasound may be helpful where there is doubt about diagnosis or if clinical exam is difficult: for example, due to a small scrotum or obesity.
Clinical evaluation in adolescents
During the exam, the patient should be supine; a complete genitourinary exam should be undertaken assessing Tanner stage, testicular size, presence or absence of testicular mass or fullness of the spermatic cord, consistency of testes, and relative size comparison. It is imperative to examine the patient in the standing position to check for hernias or varicoceles, most commonly in the left hemiscrotum. If fullness of cord or suggestion of varicocele is present, the patient should be instructed to perform a Valsalva maneuver (forcibly try to exhale through a closed airway). If a varicocele is present or suggested, the patient should be referred to a urologist for further evaluation, measurement of testis, and confirmation of varicocele and grade.
It is critical that a supine exam is also performed to ensure drainage of the varicocele in the recumbent position. When a varicocele does not diminish in the supine position, one should consider further imaging, such as computed tomography (CT) or magnetic resonance imaging (MRI) scan of the abdomen and pelvis, or retroperitoneal ultrasound, to rule out abdominal or retroperitoneal mass causing physical obstruction of testicular venous return. Similarly, a right-sided varicocele alone is rare in adolescents and should also raise suspicion of a retroperitoneal or pelvic compressive mass (although this is rare).[24]
Clinical evaluation in adults
A complete history should include determining whether there has been any associated infertility, scrotal discomfort, or a loss in testicular size.
Diagnosis requires a thorough scrotal exam that is best performed when the patient is relaxed and comfortable in a warmed room. It is essential to allow for the patient's cremasteric muscles to fully relax prior to the examination. With the patient in a standing position, most moderate or large varicoceles are readily apparent by palpation or direct visualization. Palpation and/or inspection of the spermatic cord above the testicle may reveal the pathognomonic "bag of worms" appearance. The Valsalva maneuver may be necessary to elicit small varicoceles (grade I/II), which may require some experience to diagnose. Testicular exam with calipers or orchidometers can determine testicular asymmetry and atrophy.
Where possible infertility is a concern, a referral to a male fertility specialist should be considered. As with adolescents, a varicocele that does not drain in the supine position, or an isolated right-sided varicocele, should raise concern for an abdominal or retroperitoneal mass and warrants further evaluation with the appropriate imaging (CT or MRI of abdomen and pelvis, or retroperitoneal ultrasound), although a retrospective analysis found that laterality of varicocele was not significantly associated with cancer diagnosis in men.[25][26]
Investigations
Physical exam is the primary diagnostic test for varicoceles.
Scrotal ultrasound
Doppler ultrasound is a useful adjunct to identify varicoceles in larger men where the scrotal exam is made challenging by thick scrotal skin or increased amounts of scrotal tissue. It may also detect subclinical varicoceles. Ultrasound may be of value to obtain an accurate baseline measurement for subsequent serial exams, but the potential cost of ultrasound should be considered prior to ordering its routine use.[27] An ultrasound examination for varicocele should include images with the patient standing, as dilated veins may not be as readily apparent in the supine position. While ultrasound can be a useful tool, its utility is limited by the lack of standardization for exam technique, diagnostic criteria, or classification.[28]
Semen analysis and serum follicle-stimulating hormone (FSH)
Semen analyses (on two or three separate occasions) and evaluation of serum FSH and testosterone levels help assess testicular function. Abnormal sperm production in the context of an elevated FSH is consistent with impaired spermatogenesis (due to varicocele and/or other causes). However, elevation of FSH (with or without a gonadotropin-releasing hormone stimulation test) does not always correlate with abnormal semen parameters or fertility. Of note, FSH levels in the high/normal of the reference range are considered abnormal in men with impaired semen parameters. Reduced testosterone levels suggest impaired steroidogenesis. Men presenting with low testosterone and related symptoms may also be found to have a varicocele. Varicocele is a potential cause of decreased testosterone production in men.[29]
US guidelines suggest that adult men with a palpable asymptomatic varicocele and normal semen parameters can be observed with serial semen analyses every 1 to 2 years to identify those men who may eventually show signs of impaired testicular function.[30]
Sperm DNA fragmentation testing
Increasingly used in the evaluation of male infertility.
Sperm DNA fragmentation is associated with male infertility.[31] Assessment of the sperm DNA fragmentation index (DFI), in combination with conventional semen analysis, may facilitate improved diagnostic accuracy of male infertility.[32] Furthermore, emerging evidence indicates that varicocele repair could be associated with improvement in DFI and likelihood of pregnancy.[33][34][35][36] Improvement in sperm parameters is variable, and contingent on patient factors including varicocele grade, age, pretreatment sperm parameters, and hormone levels.[37] In the presence of multiple potential causes for impaired semen parameters, or in cases of infertility despite normal semen parameters, ancillary testing such as DFI might help decide whether to treat a varicocele.[38]
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