Carney Complex in Clinical Practice

Abstract

Carney complex (CNC) is a rare autosomal dominantly inherited syndrome with near-to-complete penetrance characterized by multiple endocrine and nonendocrine neoplasia. Morbidities are mainly associated with cardiac myxoma and hormonal overactivity.

Although genetically heterogeneous, most CNC cases are a consequence of germline inactivating mutations in the gene encoding the cAMP-dependent protein kinase A type I-alpha regulatory subunit (PRKAR1A).

Here, we present the case of a patient with Cushing’s syndrome due to primary pigmented nodular adrenocortical disease (PPNAD) and an asymptomatic IGF-1 and GH excess, with a positive family history for adrenal cortisol-secreting adenoma. DNA mutation analysis revealed a heterozygous splice site mutation in PRKAR1A with possible deleterious effects on protein function.

After medical treatment with steroidogenesis inhibitors, left monolateral laparoscopic adrenalectomy was performed, achieving a recovery of cortisol-related signs and symptoms. After substitutive glucocorticoid discontinuation, the pituitary-adrenal function was consistent with autonomous cortisol secretion without overt hypercortisolism. Treatment with somatostatin analogues was efficacious in normalizing IGF-1 levels.