Michela Rosaria Campo, Olga Lamacchia, Anna Farese, Antonella Conserva, Giuseppe Picca, Gianpaolo Grilli, Mauro Cignarelli
OBJECTIVE: Primary pigmented nodular adrenocortical disease (PPNAD), an uncommon cause of Cushing’s syndrome, is frequently associated with a wider clinical spectrum, the Carney complex (CC), a multiple endocrine neoplasia syndrome …
Labrini Papanastasiou, Stelios Fountoulakis, Nikos Voulgaris, Theodora Kounadi, Theodosia Choreftaki, Akrivi Kostopoulou, George Zografos, Charalampos Lyssikatos, Constantine A. Stratakis, George Piaditis
OBJECTIVE: Carney complex (CNC) is a rare autosomal dominant multiple neoplasia syndrome characterized by the presence of endocrine and non-endocrine tumors. More than 125 different germline mutations of the protein Kinase A type 1-α regulatory subunit (PRKAR1A) gene have been reported. We present a novel PRKAR1A gene germline mutation in a patient with severe osteoporosis and recurrent vertebral fractures. DESIGN: Clinical case report …