Exp Clin Endocrinol Diabetes 2019; 127(02/03): 156-164
DOI: 10.1055/a-0753-4943
Review
© Georg Thieme Verlag KG Stuttgart · New York

Carney Complex

Crystal D. C. Kamilaris
1  Section on Endocrinology and Genetics & Endocrinology Inter-institute Training Program, Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, USA
,
Fabio Rueda Faucz
1  Section on Endocrinology and Genetics & Endocrinology Inter-institute Training Program, Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, USA
,
Antonis Voutetakis
2  Division of Endocrinology, Metabolism and Diabetes, 1st Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Athens, Greece
,
Constantine A. Stratakis
1  Section on Endocrinology and Genetics & Endocrinology Inter-institute Training Program, Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, USA
› Author Affiliations
Further Information

Publication History

received 17 May 2018
revised 06 September 2018

accepted 02 October 2018

Publication Date:
14 November 2018 (online)

Abstract

Carney complex is a rare, autosomal dominant, multiple endocrine neoplasia and lentiginosis syndrome, caused in most patients by defects in the PRKAR1A gene, which encodes the regulatory subunit type 1α of protein kinase A. Inactivating defects of PRKAR1A lead to aberrant cyclic-AMP-protein kinase A signaling. Patients may develop multiple skin abnormalities and a variety of endocrine and non-endocrine tumors. Endocrine manifestations include primary pigmented nodular adrenocortical disease, that may cause Cushing syndrome, growth-hormone secreting pituitary adenoma or pituitary somatotropic hyperplasia which can result in acromegaly, as well as gonadal and thyroid tumors. Non-endocrine tumors associated with Carney complex include myxomas of the heart, breast, and other sites, psamommatous melanotic schwannomas, breast ductal adenomas, osteochondromyxomas, and a predisposition to a number of malignancies from adrenal to pancreatic and liver cancer.