Abstract #137 A Case of Cushing’s Syndrome Diagnosed as Carney Complex Syndrome in an older Female

2018 ◽  
Vol 24 ◽  
pp. 22
Author(s):  
Ariane Davis ◽  
Pamela Schroeder ◽  
Mansur Shomali
Keyword(s):  
Cushing’S Syndrome ◽  
Carney Complex ◽  
Cushing's Syndrome

Neurosurgical implications of Carney complex

2000 ◽  
Vol 92 (3) ◽  
pp. 413-418 ◽  
Author(s):  
Joe C. Watson ◽  
Constantine A. Stratakis ◽  
Peter K. Bryant-Greenwood ◽  
Christian A. Koch ◽  
Lawrence S. Kirschner ◽  
...  
Keyword(s):  
Cushing’S Syndrome ◽  
Pituitary Adenomas ◽  
Carney Complex ◽  
Cushing's Syndrome ◽  
Spinal Tumors ◽  
Common Component ◽  
Content Type ◽  
Cardiac Myxomas ◽  
Insight Into ◽  
Fine Print

Object. The authors present their neurosurgical experience with Carney complex. Carney complex, characterized by spotty skin pigmentation, cardiac myxomas, primary pigmented nodular adrenocortical disease, pituitary tumors, and nerve sheath tumors (NSTs), is a recently described, rare, autosomal-dominant familial syndrome that is relatively unknown to neurosurgeons. Neurosurgery is required to treat pituitary adenomas and a rare NST, the psammomatous melanotic schwannoma (PMS), in patients with Carney complex. Cushing's syndrome, a common component of the complex, is caused by primary pigmented nodular adrenocortical disease and is not secondary to an adrenocorticotropic hormone-secreting pituitary adenoma.Methods. The authors reviewed 14 cases of Carney complex, five from the literature and nine from their own experience. Of the 14 pituitary adenomas recognized in association with Carney complex, 12 developed growth hormone (GH) hypersecretion (producing gigantism in two patients and acromegaly in 10), and results of immunohistochemical studies in one of the other two were positive for GH. The association of PMSs with Carney complex was established in 1990. Of the reported tumors, 28% were associated with spinal nerve sheaths. The spinal tumors occurred in adults (mean age 32 years, range 18–49 years) who presented with pain and radiculopathy. These NSTs may be malignant (10%) and, as with the cardiac myxomas, are associated with significant rates of morbidity and mortality.Conclusions. Because of the surgical comorbidity associated with cardiac myxoma and/or Cushing's syndrome, recognition of Carney complex has important implications for perisurgical patient management and family screening. Study of the genetics of Carney complex and of the biological abnormalities associated with the tumors may provide insight into the general pathobiological abnormalities associated with the tumors may provide insight into the general pathobiological features of pituitary adenomas and NSTs.

scholarly journals Primary pigmented nodular adrenocortical disease and Cushing's syndrome

2007 ◽  
Vol 51 (8) ◽  
pp. 1238-1244 ◽  
Author(s):  
Anelia Horvath ◽  
Constantine Stratakis
Keyword(s):  
Molecular Genetics ◽  
Cushing’S Syndrome ◽  
Adrenal Glands ◽  
Skin Pigmentation ◽  
Carney Complex ◽  
Cushing's Syndrome ◽  
Camp Signaling ◽  
Camp Signaling Pathway ◽  
Molecular Studies ◽  
Adrenocortical Hyperplasia

Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with corticotrophin (ACTH)-independent Cushing's syndrome (CS) and is characterized by small to normal-sized adrenal glands containing multiple small cortical pigmented nodules (1,2). PPNAD may occur in an isolated form or associated with a multiple neoplasia syndrome, the complex of spotty skin pigmentation, myxomas, and endocrine overactivity, or Carney complex, in which Cushing's syndrome is the most common endocrine manifestation (3). Molecular studies have led to the identification of several genes, defects in which may predispose PPNAD formation; all of these molecules play important role for the cAMP signaling pathway. This review intends to present the most recent knowledge of the pathology and molecular genetics of the benign bilateral adrenocortical lesions, as well as to discuss the modern tools for diagnostics and treatment of this condition.

scholarly journals Cushing’s syndrome due to primary pigmented nodular adrenal disease in two brothers with Carney complex

2020 ◽  
Vol 26 (3) ◽  
pp. 155-158
Author(s):  
Bhawna Attri ◽  
Anshita Aggarwal ◽  
Sahil Mattoo ◽  
Bindu Kulshreshtha
Keyword(s):  
Cushing’S Syndrome ◽  
Carney Complex ◽  
Cushing's Syndrome ◽  
Adrenal Disease

Cushing’s syndrome in early infancy due to isolated sporadic bilateral micronodular adrenocortical disease associated with myosin heavy chain 8 mutation: diagnostic challenges, too many!

2020 ◽  
Vol 13 (10) ◽  
pp. e236850
Author(s):  
Sananda Majumder ◽  
Partha Pratim Chakraborty ◽  
Prakash Chandra Ghosh ◽  
Mitali Bera
Keyword(s):  
Myosin Heavy Chain ◽  
Cushing’S Syndrome ◽  
Heavy Chain ◽  
Mutational Analysis ◽  
Carney Complex ◽  
Cushing's Syndrome ◽  
Chromosome 17 ◽  
Chain Gene ◽  
High Dose ◽  
Diagnostic Challenge

Endogenous Cushing’s syndrome (CS) is rare in infancy. Bilateral micronodular adrenocortical disease (BMAD), either primary pigmented nodular adrenocortical disease or the non-pigmented isolated micronodular adrenocortical disease is an important aetiology of CS in this age group, which requires bilateral adrenalectomy for cure. BMAD may be isolated, or a component of Carney complex. Isolated sporadic BMAD without other systemic manifestations poses a diagnostic challenge. Paradoxical cortisol response to dexamethasone suggests, while adrenal histopathology and mutational analysis of the culprit genes confirm BMAD. BMAD was suspected in 6-year-old infant with midnormal adrenocorticotrophic hormone, inconclusive adrenal and pituitary imaging and paradoxical increase in cortisol following high dose of dexamethasone. Exome sequencing revealed heterozygous c.354+1G>C (5′ splice site) variant in the myosin heavy chain gene (MYH8), located in chromosome 17. This particular variant has not been reported in the literature. In view of suspected phenotype and its absence in the population databases, the variant was classified as pathogenic.

Sign in / Sign up

Export Citation Format

Share Document