Carney Complex With Endocrine Involvement Isolated to the Thyroid Gland

Abstract Introduction: Carney complex is a rare autosomal dominant disorder characterized by pigmented lesions of skin and mucosae, endocrine neoplasms or overactivity, myxomas the heart, skin, other organs. Most patients have at least two affected organs time diagnosis. We present case with involvement limited to thyroid gland. Case: A 48-year-old female was referred for evaluation nodules incidentally discovered on imaging submandibular salivary gland swelling. Ultrasound revealed numerous, bilateral that were mostly cystic spongiform, though some had irregular borders microcalcifications. brother been diagnosed papillary carcinoma, patient decided undergo thyroidectomy. Fortunately, no carcinoma found postsurgical histopathology. Initial biochemical showed evidence hypercortisolemia (8 AM cortisol 1.7 mcg/dL 1 mg dexamethasone suppression test; 24-h urine 26.1 mcg [reference: 4-50]), growth hormone excess (IGF-1 190 ng/mL 52-328]), hyperprolactinemia (prolactin 10 2.74-26.72]). Imaging pituitary adrenal masses. The underwent total hysterectomy salpingo-oophorectomy endometrial cancer prior referral. She age 19 years, her manifestations included atrial ventricular myxomas, intraductal adenoma breast, multiple (lentigines, blue nevi, cutaneous myxomas), external auditory canals. in kindred includes mother, brothers, niece. Discussion: usually caused inactivating mutations large deletions protein kinase type I alpha regulatory subunit (PRKAR1A) gene located chromosome 17q22-24. are inherited an manner, approximately 30% cases due de novo mutations. In review 365 cases, median diagnosis 20 years. Growth adenomas somatomammotroph hyperplasia occurs 75% patients, most one additional abnormality including multinodular goiter, primary nodular adrenocortical hyperplasia, testicular ovarian There 10% chance developing well differentiated carcinoma. Treatment individualized depending patient’s presentation excision surgical removal neoplasms, lesions, as regular cardiac overactivity. This unusual because only endocrinopathy goiter.