Hyperglycemia and Hypokalemia in a 16-Year-Old Overweight Female Patient Misdiagnosed with Cushing Syndrome at First and Ultimately Diagnosed with Carney Complex Proven by PRKAR1A Gene Test: a Case Report and Literature Review

BACKGROUND: Here we report on a 16-year-old female patient with typical Cushingoid features who was admitted because of purple striae, menostasis, and microsomia for 1 year, and laboratory tests showed hyperglycemia and hypokalemia. METHODS: For diagnosis, we employed a hormone test, abdominal and pituitary computed tomography scan, ultrasonography to detect endocrine and cardiocutaneous lesions. DNA sequencing to detect PRKAR1A gene mutation to make differential diagnosis for Cushing Syndrome. RESULTS: Hormone test revealed hypercortisolism, images demonstrated right adrenal nodular hyperplasia and hyperparathyroid hyperplasia. DNA sequencing analysis revealed a heterozygous C.680 G>A substitution in PRKAR1A. CONCLUSIONS: We describe here an atypical Carney Complex (CNC) patient magnified Cushing Syndrome with a nonsense mutation in the PRKAR1A gene, which cannot sustain the diagnosis except for the RKAR1A gene sequencing for analysis.