Tehran University of Medical Sciences Iranian Journal of Public Health 2251-6085 47 4 2018 04 23 597 602 Mengxue YANG Dept. of Endocrinology, Affiliated Hospital of Zunyi Medical University, Zunyi, China Biao LONG Dept. of Pediatrics, Qiandongnan People’s Hospital, Kaili, Guizhou, China Jie XU School of Public Health, Zunyi Medical University, Zunyi, China Jie YU School of Public Health, Zunyi Medical University, Zunyi, China Xianwen LI Dept. of Endocrinology, Affiliated Hospital of Zunyi Medical University, Zunyi, China Fanhao YE Dept. of Endocrinology, Affiliated Hospital of Zunyi Medical University, Zunyi, China Bo YANG Dept. of Endocrinology, Affiliated Hospital of Zunyi Medical University, Zunyi, China Yulan LIAO Dept. of Endocrinology, Affiliated Hospital of Zunyi Medical University, Zunyi, China Sicheng LI Dept. of Endocrinology, Affiliated Hospital of Zunyi Medical University, Zunyi, China Ya LI Dept. of Endocrinology, Affiliated Hospital of Zunyi Medical University, Zunyi, China Xue ZHOU Dept. of Endocrinology, Affiliated Hospital of Zunyi Medical University, Zunyi, China 2018 04 23 2018 04 23 Carney complex (CNC) is a rare genetic disease. Here, we report a case of CNC and explore clinical manifestations and gene mutation studies of CNC. A male patient with CNC at the age of 16 yr was admitted to Affiliated Hospital of Zunyi Medical University in July, 2015. Although the patient had typical signs of Cushing's syndrome, he also presented with certain rare signs of Cushing's syndrome, such as "freckle-like" scattered spots of pigmentation on the face and around the lips. In addition, concomitant severe osteoporosis led to flattened vertebrae and the compression of corresponding levels of the spinal cord. Radiographic findings revealed adrenal nodular hyperplasia. Based on sequencing, 2 novel heterozygous mutations of the PRKAR1A gene were found. CNC was eventually diagnosed via pathologic biopsy. After 1 year of follow-up, the patient exhibited weight loss, relief of low back pain, normal blood biochemical indicators and cortisol levels at the lower limit of the normal range.   https://ijph.tums.ac.ir/index.php/ijph/article/view/13163 https://ijph.tums.ac.ir/index.php/ijph/article/download/13163/5959