[Primary pigmented nodular adrenocortical dysplasia (PPNAD) within the scope of Carney complex as the etiology of Cushing syndrome].
BACKGROUND
Primary pigmented adrenocortical dysplasia (PPNAD) represents a rare disorder of the adrenal glands and frequently occurs in patients with the so-called Carney complex. Carney complex is an autosomal dominant neoplasia syndrome including skin and mucosal lentigines, myxomas, and PPNAD.


METHODS
A 37-year-old woman suffered from several episodes of weight gain/depression and weight loss/mania indicating cyclic hypercortisolism. Finally, she developed a full-blown Cushing's syndrome (CS) treated by bilateral adrenalectomy. She had PPNAD in the setting of Carney complex.


CONCLUSIONS
PPNAD may lead to different clinical manifestations: 1. subclinical hypercortisolism, 2. intermittent hypercortisolemia, and 3. full-blown CS. It can be diagnosed with the 6-day Liddle test that typically shows a paradoxical stimulation of cortisol secretion after dexamethasone administration. The treatment of choice for PPNAD is bilateral adrenalectomy in order to prevent devastating long-term effects of hypercortisolism.
Koch
C A
CA
National Institutes of Health, Developmental Endocrinology Branch, NICHD, Bethesda, MD, USA.
Bornstein
S R
SR
Chrousos
G P
GP
Stratakis
C A
CA
D000302:Adrenal Cortex / Q000473:pathology; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003480:Cushing Syndrome / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D005799:Genes, Dominant; D006338:Heart Neoplasms / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D009232:Myxoma / Q000175:diagnosis / Q000235:genetics; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000235:genetics*; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics