To diagnose Carney complex, healthcare providers look for symptoms such as freckle-like spots on the skin and tumors in different places throughout the body. They may also run genetic and other tests to diagnose the condition.
Healthcare providers will diagnose Carney complex in a person with two or more symptoms from the following list or in a person with one of these symptoms as well as an immediate family member with Carney complex or a genetic test result that is positive for Carney complex.
Healthcare providers look for the following symptoms:1
- Spotty skin pigmentation (dark spots) around the lips, eyelid, corners of the eye, the vagina or penis
- Multiple dark blue/black moles
- Tumors on/in/under the skin, heart, or breast
- Primary pigmented nodular adrenocortical disease or a positive dexamethasone suppression test (sometimes called a Liddle test)
- Nodules, adenomas, tumors, or carcinomas on the thyroid gland
- Acromegaly/gigantism (overgrowth of bones)
- Calcium deposits or large-cell calcifying Sertoli cell tumors in the testes
- Breast or ductal adenomas or tumors
- Tumors of nerve sheath (psammomatous melanotic schwannomas)
- Tumors on the bone, called osteochondromyxomas (rare)
Healthcare providers might also look for these other symptoms:2
- Intense freckling (without darkly pigmented spots or typical distribution)
- Café-au-lait spots or other birthmarks
- Multiple skin tags or other skin lesions or lipomas (benign fatty tumors)
- An enlarged heart (cardiomyopathy)
- A history of Cushing syndrome (high cortisol levels), acromegaly/gigantism, or sudden death in the extended family
- A “pitted” area in the skin at the base of the spine, called a pilonidal sinus
- Elevated insulin-like growth factor-1 (IGF-1) levels or elevated growth hormone levels
- A single, benign thyroid lump in a young patient or multiple thyroid lumps in an older patient
- Benign overgrowths projecting from the colon (i.e., polyps, usually in association with acromegaly)
- Elevated prolactin levels (usually mild and almost always combined with acromegaly)
- A family history of cancer, particularly of the thyroid, colon, pancreas, or ovary, or a family history of multiple other noncancerous or cancerous tumors
Tests to screen for Carney complex
Screening for Carney complex must be thorough to cover all locations where Carney complex tumors may grow, such as the heart, the endocrine system, and the reproductive organs. These screening tests can include:1,2
- Ultrasound, which uses sound to create a picture of the inside of the body
- This includes an echocardiogram (EKG or ECG), an ultrasound of the heart.
- Magnetic resonance imaging (MRI) scan
- Computerized tomography (CT or CAT) scan
Blood tests to measure
- Adrenal gland hormones (including cortisol), growth hormone, prolactin, IGF-1, and adrenocorticotropic hormone (ACTH)
- Thyroid hormones, including thyroid-stimulating hormone and free thyroxine
- Levels of reproductive hormones, including luteinizing hormone, and follicle-stimulating hormone
- 24-hour urine test for cortisol, creatinine, and 17-hydroxysteroids
- Dexamethasone suppression test (Liddle test)
- Salivary test for cortisol
- Oral glucose test
The specific type of screening test used for Carney complex often depends on the person’s age and symptoms and whether healthcare providers find tumors. For example, a person who has not yet gone through puberty may get different tests than someone who is older. Additional tests may also be needed if tumors are detected or suspected, to determine their location and size.
Once a healthcare provider determines through screening whether the person meets the clinical criteria for Carney complex, the provider might recommend genetic testing from a commercial laboratory. Certain people who meet the clinical criteria for Carney complex may not test positive for a PRKAR1A mutation. This does not mean they do not have Carney complex. They may either have a mutation that was not identified by the available technology or have a mutation in another gene or chromosome.