Familial primary pigmented nodular adrenocortical disease without Carney complex (CNC): A case report and review of literature

Vaibhav Pandey, Vivek Srivastava, Anand kumar, Mumtaz Ansari, S. K. Singh

Department of Endocrinology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India.
Department of General Surgery, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India.
Department of Paediatric Surgery, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India;.

DOI: 10.4236/crcm.2013.28119                

Abstract

Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of familial Cushing's syndrome. It is characterized by bilateral adrenocortical hyperplasia with small to normal-sized adrenal glands containing multiple small adrenal cortical pigmented nodules [1,2]. PPNAD may occur in an isolated form or as familial PPNAD. Familial cases of PPNAD are usually associated with Carney complex in which Cushing’s syndrome is the most common endocrine manifestation [3]. Familial cases of PPNAD without associated Carney complex are very rare. Only a few cases of familial isolated PPNAD have been reported in the literature, mostly in females [4]. Isolated familial PPNAD has got a better prognosis than familial PPNAD associated with Carney Complex. This observation has important consequences for clinical management, follow-up and genetic counselling of such patients. Familial cases of PPNAD are rare and mostly present in females with associated Carney complex. We herein report a case of familial Cushing’s syndrome in male siblings due to PPNAD without associated Carney complex.

Keywords

PPNAD; Carney Complex; Familial Cushing’s Syndrome

Conflicts of Interest

The authors declare no conflicts of interest.

References

[1]	Carney, J.A. and Young, W.F. (1992) Primary pigmented nodular adrenocortical disease and its associated conditions. Endocrinologist, 2, 6-21. http://dx.doi.org/10.1097/00019616-199201000-00003
[2]	Stratakis, C.A. and Kirschner, L.S. (1998) Clinical and genetic analysis of primary bilateral adrenal diseases (micro-and macronodular disease) leading to Cushing syndrome. Hormone and Metabolic Research, 30, 456-63. http://dx.doi.org/10.1055/s-2007-978914
[3]	Stratakis, C.A., Kirschner, L.S. and Carney, J.A. (2001) Clinical and molecular features of the Carney complex: Diagnostic criteria and recommendations for patient evaluation. The Journal of Clinical Endocrinology & Metabolism, 86, 4041-4046. http://dx.doi.org/10.1210/jc.86.9.4041
[4]	Groussin, L., Horvath, A., Jullian, E., Boikos, S., Rene-Corail, F., Lefebvre, H., et al. (2006) A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. The Journal of Clinical Endocrinology & Metabolism, 91, 1943-1949. http://dx.doi.org/10.1210/jc.2005-2708
[5]	Arnaldi, G., Angeli, A., Atkinson, A.B., et al. (2003) Diagnosis and complications of Cushing’s sy ndrome: A consensus statement. The Journal of Clinical Endocrinology & Metabolism, 88, 5593-5602. http://dx.doi.org/10.1210/jc.2003-030871
[6]	Stratakis, C.A. (2007) Adrenocortical tumors, primary pigmented adrenocortical disease (PPNAD)/Carney complex, and other bilateral hyperplasias: The NIH studies. Hormone and Metabolic Research, 39, 467-473. http://dx.doi.org/10.1055/s-2007-981477
[7]	Carney, J.A., Gordon, H., Carpenter, P.C., Shenoy, B.V. and Go, V.L. (1985) The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine, 64, 270-283. http://dx.doi.org/10.1097/00005792-198507000-00007
[8]	Sarlis, N.J., Chrousos, G.P., Doppman, J.L., Carney, J.A. and Stratakis, C.A. (1997) Primary pigmented nodular adrenocortical disease: Reevaluation of a patient with Carney complex 27 years after unilateral adrenalectomy. The Journal of Clinical Endocrinology & Metabolism, 82, 1274-1278. http://dx.doi.org/10.1210/jc.82.4.1274
[9]	Groussin, L., Jullian, E., Perlemoine, K., Louvel, A., Leheup, B., Luton, J.P., et al. (2002) Mutations of the PRKAR1A gene in Cushing’s syndrome due to sporadic primary pigmented adrenocortical disease. The Journal of Clinical Endocrinology & Metabolism, 87, 4324-4329. http://dx.doi.org/10.1210/jc.2002-020592
[10]	Doppman, J.L., Travis, W.D., Nieman, L., Chrousos, G.P., Gomez, M.T., Cutler, G.B., et al. (1989) Cushing syndrome due to primary pigmented nodular adrenocortical disease: Findings at CT and MR imaging. Radiology, 172, 415-420.
[11]	Stratakis, C.A., Sarlis, N., Kirschner, L.S., Carney, J.A., Doppman, J.L., Nieman, L.K., Chrousos, G.P. and Papanicolaou, D.A. (1999) Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical disease. Annals of Internal Medicine, 131, 585-591. http://dx.doi.org/10.7326/0003-4819-131-8-199910190-00006
[12]	Neville, A.M., McGee, J.O’D., Isaacson, P.G. and Wright, N.A. (1992) Oxford Textbook of pathology. Vol. 2b. In: Pathology of systems. Oxford medical publications. Oxford University Press, New York, 1968-1986.