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"Primary Pigmented Nodular Adrenocortical Disease in a Patient with Carney Complex: A Case Report"

Carney complex (CC) is a rare, familial, multiple endocrine neoplasia syndrome, characterized by cardiac myxomas, skin lentigenes, and endocrine tumors. The most common endocrine manifestation is PPNAD. A 14-year old girl was referred for further evaluation of Cushing syndrome (CS). The patient (pt) complained of hirsutism, weight gain, and acne. She had not reached menarche and had crossed growth percentiles from the 75th % 4 years prior, to <5th %. There was no family history of endocrine tumors. The pt appeared Cushingoid and had diffuse lentigenes on the nose, cheeks, inner canthi, and lips. Laboratory testing demonstrated unsuppressible, ACTH-independent hypercortisolism. Echocardiogram was normal. Subtle nodularity of the left adrenal gland was noted on CT. A presumptive diagnosis of PPNAD was made and she underwent bilateral adrenalectomy. Surgical pathology confirmed the diagnosis. The pt met criteria for CC, as she had both PPNAD and lentiginosis. Genetic testing did not reveal a mutation in the gene PRKAR1A. Following surgery, the pt had significant weight loss and linear growth (23 cm in 1 year), and improvement in acne and hirsutism.
Journal/Publication - AACE, April 2009

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