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Endocrinology

Symptoms and Diagnostic Imaging

At a Glance

Testicular adrenal rest tumors in people with congenital adrenal hyperplasia are often silent and are checked first with scrotal ultrasound. Masses in both testicles near the central gateway support this diagnosis, but a one-sided or rapidly growing mass needs urologic assessment to rule out cancer.

Because Adrenal Rest Tumors are benign and often do not cause pain, they can be difficult to detect without medical imaging. Identifying them early is key to managing their growth and protecting your reproductive health.

Symptoms of Testicular Adrenal Rest Tumors (TART)

In the early stages, TARTs are almost always asymptomatic, meaning they cause no noticeable symptoms and cannot be felt by a doctor [1][2].

As these tumors grow, a patient may notice:

  • A Palpable Mass: A firm, often painless lump that can be felt within the scrotum [3].
  • Testicular Enlargement or Heaviness: The testicle may feel heavier or look larger than the other [4].
  • Aching or Discomfort: Some patients experience a dull ache or localized discomfort [5].
  • Fertility Concerns: Difficulty conceiving or abnormal semen analysis is often a reason TARTs are first discovered in adults [6].

🚨 URGENT SAFETY WARNING
Not all pain is caused by a TART. Sudden, severe testicular pain, rapid swelling, a high-riding testicle, nausea/vomiting, or an acutely painful mass are signs of a medical emergency (such as testicular torsion or infection). Seek emergency medical care immediately. Do not assume these symptoms are just your CAH or a TART. Additionally, any new, rapidly growing, or unilateral (one-sided) mass must be evaluated promptly by a specialist to rule out testicular cancer.

Symptoms of Ovarian Adrenal Rest Tumors (OART)

OARTs are exceedingly rare. When they do occur, their symptoms overlap significantly with general CAH “breakthrough” symptoms (when the steroid dose isn’t effectively controlling the adrenals) or other common conditions like Polycystic Ovary Syndrome (PCOS). Symptoms that warrant broader evaluation include:

  • Persistent Virilization: The development of male-pattern traits, such as a deepening voice or increased facial hair, that does not improve with medication [7][8].
  • Menstrual Changes: Amenorrhea (the absence of periods) or very irregular cycles [7].
  • Chronic Pelvic Pain: Though less common, some patients report persistent abdominal or pelvic discomfort [9].
    Note: A normal scan plus these symptoms does NOT necessarily mean an occult OART is present. These are triggers for a comprehensive endocrine and gynecologic evaluation.

Diagnostic Imaging for TART

The preferred initial test for evaluating TART is a scrotal ultrasound [10][11]. Doctors interpret the scan alongside your clinical history and lab results. They look for specific features that suggest a mass is an adrenal rest tumor rather than cancer:

  • Bilateral Presence: TARTs are frequently found in both testicles [12][13]. Testicular cancer is more likely to appear in only one testicle.
  • Location: TARTs are almost always located near the mediastinum testis, the “gateway” area where vessels and tubes enter the testicle [12][14].
  • Appearance and Blood Flow: On the screen, they typically appear hypoechoic (darker than the surrounding tissue) and often have visible blood flow on a Doppler ultrasound [12].

The Danger of Misdiagnosis

One of the greatest risks for males with CAH is that a TART can look similar to Leydig cell tumors or other types of testicular cancer on an ultrasound [15][16].

If a radiologist or urologist is not aware that you have CAH, they may strongly suspect cancer. A characteristic bilateral pattern near the mediastinum in a patient with known CAH strongly supports the diagnosis of TART and often allows doctors to avoid an unnecessary orchiectomy (surgical removal of the testicle) [17][2].

However, ultrasound and ACTH levels alone cannot 100% rule out cancer. High ACTH simply reflects CAH control, not the tumor itself. If a mass is unilateral, atypical, rapidly growing, or if cancer cannot be safely excluded, you will need an expert urology assessment. This may involve specialized blood tests (tumor markers like AFP or beta-hCG) ordered by a doctor, advanced imaging (MRI), or in carefully selected cases, a tissue-sparing diagnostic surgery or removal.

Why OARTs Are Frequently Missed

OARTs are much harder to find than TARTs. Standard ultrasounds and MRIs frequently come back “normal” or negative even when an OART is present, often because they grow in unusual spots like the ligaments surrounding the ovaries [9][18]. If your hormone levels are well-controlled but you still have severe symptoms (like a deepening voice or no periods), your doctor will evaluate for a variety of causes, which in very rare cases might include using advanced imaging to look for OART [18][8].

Screening Guidelines

Because TARTs can develop early and are often asymptomatic, many specialists recommend starting regular scrotal ultrasounds during puberty (or earlier if hormone control is difficult) [19][11]. The exact frequency should be individualized by your endocrinologist based on your CAH phenotype, biochemical control, and previous ultrasound findings [20].

Common questions in this guide

What symptoms can a testicular adrenal rest tumor cause?
Early testicular adrenal rest tumors usually cause no noticeable symptoms. As they grow, they may cause a firm, painless lump, testicular enlargement or heaviness, a dull ache, or fertility problems such as difficulty conceiving or an abnormal semen analysis.
What does an ultrasound typically show with a TART?
Scrotal ultrasound is usually the first imaging test. TARTs often occur in both testicles near the mediastinum testis, the central area where vessels and tubes enter, and may look darker than surrounding tissue with blood flow on Doppler imaging.
Can an ultrasound confirm that a testicular mass is a TART instead of cancer?
A typical pattern in both testicles near the mediastinum testis can support a TART diagnosis, especially in someone with congenital adrenal hyperplasia, but ultrasound and ACTH levels cannot completely rule out cancer. A one-sided, unusual, or rapidly growing mass should be assessed promptly by a urologist and may require tumor-marker blood tests, MRI, or carefully selected diagnostic surgery.
When should testicular pain or swelling be treated as an emergency?
Sudden severe pain, rapid swelling, a testicle that sits higher than usual, nausea or vomiting, or an acutely painful mass can signal testicular torsion or infection. Seek emergency medical care immediately rather than assuming the symptoms are from a TART or congenital adrenal hyperplasia.
Why might an ovarian adrenal rest tumor be missed on imaging?
Ovarian adrenal rest tumors are extremely rare and may grow in unusual locations, including the ligaments around the ovaries. Standard ultrasound or MRI can therefore appear normal, so persistent virilization, absent periods, or ongoing pelvic pain needs a broader endocrine and gynecologic evaluation.
How often should people with congenital adrenal hyperplasia be screened for TARTs?
Many specialists consider regular scrotal ultrasound starting during puberty, or earlier when hormone control is difficult. The timing should be individualized by an endocrinologist based on the person’s disease features, hormone control, and previous ultrasound findings.

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References

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This page explains symptoms and imaging patterns associated with adrenal rest tumors in people with congenital adrenal hyperplasia for informational purposes only; it does not constitute medical advice. A new, painful, one-sided, or rapidly growing testicular mass requires prompt medical assessment.