Endocrine Abstracts

Introduction

The Carney Complex (CNC) is a rare, autosomal dominant, multiple endocrine neoplasia. It involves multiple endocrine glands, cardiac and skin myxomas, mammary fibroadenomas and mucocutaneous pigmentation. Cushing’s syndrome, due to primary pigmented nodular adrenocortical disease (PPNAD), is described in 25% of the cases.

Case report

Woman, 21-year-old, was refered for secondary amenorrhea. Medical history significant for depressive syndrome and thrombophlebitis at 18-year-old. Medication: quetiapine 100 mg id. Family history: mother (52-year-old), DM type 2, hypertension and corticotropin-independent adrenal Cushing syndrome submitted to unilateral adrenalectomy, at 48 years old (histology: diffuse adrenal hyperplasia). Physical exam: BMI 18.7 kg/m², acne, facial erythrosis, hirsutism, purple striae, without mucocutaneous pigmentation. Biochemicaly: ACTH < 5 pg/ml (9–52), serum cortisol 14 µg/dl (5–25), urinary free cortisol (UFC): 345 µg/24 h (10–80) and serum cortisol after overnight dexamethasone suppression test 13.6 µg/dl. Adrenal glands on CT with normal morphology and contours. Genetic test positive for variant c.63C > Ap. (Tyr21 *) in heterozygosity in the PRKA1A gene. Diagnosis of Carney complex and Cushing’s syndrome by PPNAD were made. Genetic testing of the mother identified the same mutation. No others manifestations associated with CNC were found. While waiting for bilateral adrenalectomy the patient started ketoconazole, 200 mg bid, with improvement of the signs and symptoms of hypercortisolism. On the last appointment the patient had no acne, her menstrual cycles were regular and she was feeling more energized. Biochemical: serum cortisol 9.3 µg/dl, UFC: 47 µg/24 h. Her mother’s follow-up was started in our department.

Conclusion

CNC is rare multiple endocrine neoplasia with challenges in diagnosis. In the presence of Cushing’s syndrome and PPNAD, CNC’s diagnosis, although rare, should be considered, since bilateral adrenalectomy is essential for therapeutic success. Family screening, and management of other manifestations, are part of the follow-up and treatment of patients with Carney Complex.