Author/Authors :
YANG, Mengxue Dept. of Endocrinology - Affiliated Hospital of Zunyi Medical University, Zunyi, China , LONG, Biao Dept. of Pediatrics - Qiandongnan People’s Hospital, Kaili, Guizhou, China , XU, Jie School of Public Health - Zunyi Medical University, Zunyi, China , YU, Jie School of Public Health - Zunyi Medical University, Zunyi, China , LI, Xianwen Dept. of Endocrinology - Affiliated Hospital of Zunyi Medical University, Zunyi, China , YE, Fanhao Dept. of Endocrinology - Affiliated Hospital of Zunyi Medical University, Zunyi, China , Bo YANG Dept. of Endocrinology - Affiliated Hospital of Zunyi Medical University, Zunyi, China , LIAO, Yulan Dept. of Endocrinology - Affiliated Hospital of Zunyi Medical University, Zunyi, China , LI, Sicheng Dept. of Endocrinology - Affiliated Hospital of Zunyi Medical University, Zunyi, China , LI, Ya Dept. of Endocrinology - Affiliated Hospital of Zunyi Medical University, Zunyi, China , ZHOU, Xue Dept. of Endocrinology - Affiliated Hospital of Zunyi Medical University, Zunyi, China
Abstract :
Carney complex (CNC) is a rare genetic disease. Here, we report a case of CNC and explore clinical manifesta-tions 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 syn-drome, 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 ver-tebrae 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.
Keywords :
Primary pigmented nodular adrenocortical disease , Carney complex , Point mutation , PRKAR1A gene
