Clinical Manifestations and Molecular Biology of One Case of Carney Complex: A Case Report
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.
Carney JA, Gordon H, Carpenter PC et al (1985). The complex of myxomas, Spotty pigmentation, and endocrine overactivity. Medicine, (Baltimore), 64: 270-83.
Orth DN (1995). Cushing's syndrome. N EngI J Med, 332: 791-803.
Larsen PR, Kronenberg HM, Melmed S (2003). Williams textbook of endocrinology. 10th ed. Philadelphia: Pennsylvania, pp. 514-5.
Stratakis CA, Kirschner LS, Carney JA (2001). Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab, 86: 4041-6.
Cazabat L, Ragazzon B, Groussin L, Bertherat J (2006). PRKAR1A mutations in primary pigmented nodular adrenocortical disease. Pituitary, 9: 211-9.
Li W, Feng K, Wang O et al (2010). Clinical analysis of 8 cases of primary pigmented nodular adrenocortical disease. Basic Clin Med, 30: 538-41.
Correa R, Salpea P, Stratakis CA (2015). Carney complex: an update. Eur J Endocrinol, 173: M85-97.
Gu YY, Chen Y, Song HD et al (2004). Clinical and molecular research in a case of familial Carney complex. Zhonghua Nei Ke Za Zhi, 43: 764-8 [In Chinese].
Kirschner LS, Carney JA, Pack SD et al (2000). Mutations of the gene encoding the protein kinase A type 1-alpha regulatory subunit in patients with the Carney complex. Nat Genet, 26: 89-92.
Liu Y, Sun LL, Liu YL, Li XY, Shi YQ (2013). Study of gene mutation in a Chinese family with Carney’s complex. Chinese J Endocrinol Metabol, 29: 579-83.
Stergiopoulos SG, Stratakis CA (2003). Human tumors associated with Carney complex and germline PRKAR1A mutations: a protein kinase a disease! FEBS Lett, 546: 59-64.
Liao EY (2012). Endocrinology and metabolic diseases. 3rd edition. People’s Medical Publishing House, Beijing, pp. 625 (In Chinese).
Stratakis CA, Sarlis N, Kirschner LS et al (1999). Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical disease. Ann Intern Med, 131: 585-91.
Bourdeau I, Lacroix A, Schürch W, Caron P, Antakly T, Stratakis CA (2003). Primary pigmented nodular adrenocortical disease: paradoxical responses of cortisol secretion to dexamethasone occur in vitro and are associated with increased expression of the glucocorticoid receptor. J Clin Endocrinol Metab, 88: 3931-7.