PRKAR1A mutation causing pituitary-dependent Cushing disease in a patient with Carney complex

Carney complex with PRKAR1A gene mutation

RATIONALE Carney complex (CNC) is a multiple neoplasia syndrome with autosomal dominant inheritance. CNC is characterized by the presence of myxomas, spotty skin pigmentation, and endocrine overactivity. No direct correlation has been established between disease-causing mutations and phenotype. PATIENT CONCERNS A 16-year-old boy was admitted because of excessive weight gain over 3 years and p...

Novel Mutation in PRKAR1A in Carney Complex

A case of Carney complex in a Korean patient is presented. The patient had the characteristics of Carney complex including skin lesions, positive family history, and multiple myxomas including a superficial angiomyxoma in the perianal area. An extensive genetic analysis revealed a novel mutation in the protein kinase A type I-a regulatory subunit (PRKAR1A) gene, but not in the phosphodiesterase...

A Novel Mutation of PRKAR1A Caused Carney Complex in a Chinese Patient

Harvey Cushing Treated the First Known Patient With Carney Complex

Context Carney complex (CNC) is a syndrome characterized by hyperplasia of endocrine organs and may present with clinical features of Cushing syndrome and acromegaly due to functional adrenal and pituitary gland tumors. CNC has been linked to mutations in the regulatory subunit of protein kinase A type I-alpha (PRKAR1A) gene. Design Tissue samples were taken from the hypothalamus or thalamus ...

PITUITARY DEPENDENT CUSHING\'S SYNDROME IN IRAN

During a 5-year experience with 32 adrenal tumors with different basic problems in the Department of Endocrinology , Taleghani Hospital, 25 were found pituitary dependent Cushing's syndrome, "Cushing's disease." The treatment of patients with Cushing's disease depends on the presence or absence of pituitary tumor. Ifno pituitary tumor is demonstrated, irradiation can be given to the pituit...