| Endocrine tumor syndrome related to adrenocortical tumor |
| Li–Fraumeni syndrome | TP53 | Adrenocortical carcinoma, breast cancer, soft tissue sarcomas, osteosarcomas, leukemia, brain tumors | Abdominal ultrasound every 3 to 4 months If ultrasound is not possible, blood test every 3−4 months to measure total testosterone, dehydroepiandrosterone, and androstenedione. |
| Beckwith-Wiedemann syndrome | Abnormal methylation at 11p15.5, CDKN1C | Macroglossia, hemihyperplasia, omphalocele, neonatal hypoglycemia, macrosomia, embryonal tumors | Limited data on the utility of these screening methods Clinical evaluations for hormone excess |
| Multiple endocrine neoplasia type 1 | RET | Neoplasia of the parathyroid glands, the anterior pituitary gland, neuroendocrine tissue of gastro-entero-pancreatic organ systems | Abdominal imaging with CT or MRI is recommended every 3 years |
| Bilateral macronodular and micronodular adrenal cortical disease | ARMC5 PRKAR1A, PRKACA, PDE11A, PDE8B | Bilateral adrenal hyperplasia associated with one or more adrenal nodules, Cushing syndrome | |
| Endocrine tumor syndrome related to pheochromocytoma and paraganglioma |
| Von Hippel-Lindau syndrome | VHL | Hemangioblastomas of the retina, cerebellum, and spine, renal cell carcinoma, pheochromocytoma, paraganglioma, pancreatic cysts, neuroendocrine tumors | Annual abdominal imaging and plasma metanephrine and normetanephrine testing starting at 5 years of age |
| Multiple endocrine neoplasia type 2 | RET | Medullary thyroid cancer, PHEO, primary hyperparathyroidism | Calcium or ionized calcium with PTH levels, plasma metanephrines and normetanephrines or 24-hour urinary metanephrines and normetanephrines starting at 11 years for those in the high and highest categories and 16 years for those in the moderate category |
| Neurofibromatosis type 1 | NF1 | Plexiform neurofibromas, malignant peripheral nerve sheath tumors, optic pathway gliomas, breast cancer | Limited data on the utility of these screening methods |
| SDH-related disease | SDHA, SDHB, SDHC, SDHD | Early onset, multifocal disease, high rate of recurrence and metastasis | Recommended timing of initial tumor screening between the ages of 6 and 10 years in SDHB defects; between the ages of 10 and 15 years in SDHA, SDHC, and SDHD defects |