关键词: 库欣综合征, 原发性色素性结节状肾上腺皮质病, Carney综合征, 诊断, 治疗

Abstract: Objective To summarize the clinical characteristics of primary pigmented nodular adrenocortical disease(PPNAD). Methods 8 patients with PPNAD from 2001 to 2009 in PUMCH were reviewed, their clinical data were collected. Results PPNAD often occurred in adolescents.62.5% of patients with PPNAD were part of Carney complex(CNC).In addition to general features of Cushing's syndrome, amenorrhea and growth retardation in stature were very apparent in clinical manifestations of PPNAD, respectively 100% and 62.5%. Plasma ACTH was undetectable, circadian rhythm of plasma cortisol was disappeared, glucocorticoid excretion was increased paradoxically during the dexamethasone suppression test in 50% patients with PPNAD. Adrenal Imaging in 75% patients revealed normal-sized adrenal glands or suspectable micronodular changes. Adrenal pathologic analysis revealed numerous brown cortical nodules containing lipofuscin pigmentation. Unilateral adrenalectomy may relieve symptoms of Cushing's syndrome, but plasma ACTH and circadian rhythm of plasma cortisol were difficult to be recovered. Hypercorticoidism might recur after unilateral adrenalectomy. Conclusion PPNAD should be bewared in ACTH independent Cushing's syndrome patients without apparent adrenal mass, and CNC should be screened and followed up.

Key words: Cushing syndrome, Primary pigmented nodular adrenocortical disease, Carney complex, Diagnosis, Treatment