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 purple striae for 1 year. Physical examination revealed Cushingoid features and spotty skin
... on his face, lip, and sclera. Diagnoses: The patient was diagnosed as Carney complex. Interventions: the patient underwent right adrenalectomy and partial adrenalectomy of the left adrenal gland. Outcome: Results of imaging showed bilateral adrenal nodular hyperplasia, multiple microcalcifications of the bilateral testes, and compression fracture of the thoracolumbar spine. Histopathological results confirmed multiple pigmented nodules in the adrenal glands. DNA sequencing revealed a nonsense mutation in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A; c.205C > T). After the second adrenalectomy, the Cushingoid features disappeared, and cortisol levels returned to normal. Lessons: Carney complex is a rare disease that lacks consistent genotype-phenotype correlations. Our patient, who carried a germline PRKAR1A nonsense mutation (c.205C > T), clinical features included spotty skin pigmentation, osteoporosis, and primary pigmented nodular adrenal disease. Adrenalectomy is the preferred treatment for Cushing syndrome due to primary pigmented nodular adrenal disease. Abbreviations: ACTH = adrenocorticotropic hormone, CNC = Carney complex, IRB = institutional review board, LCCST = large-cell calcifying Sertoli cell tumor, PKA = protein kinase A, PPNAD = primary pigmented nodular adrenal disease, RIa = 1-a regulatory subunit.