A Novel Mutation in the type Iα Regulatory Subunit of Protein Kinase A (<i>PRKAR1A</i>) in a Cushing's Syndrome Patient with Primary Pigmented Nodular Adrenocortical Disease
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چکیده
منابع مشابه
A Novel PRKAR1A Mutation Identified in a Patient with Isolated Primary Pigmented Nodular Adrenocortical Disease
Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of Cushing syndrome, especially the isolated form without Carney complex, associated with germline mutations in PRKAR1A, the protein kinase A regulatory subunit type 1 alpha gene. We report a 31-year-old female who presented with secondary amenorrhea, cushingoid appearance, and hypertension without Carney complex. Biochemi...
متن کاملPrimary pigmented nodular adrenocortical disease.
Primary pigmented nodular adrenocortical disease (PPNAD) is a rare adrenal tumour causing corticotrophin-independent Cushing's syndrome. It occurs mainly in children and young adults. The histological examination is characterised by small pigmented micronodules on the adrenal cortex. The diagnosis is most often seen in patients with Carney Complex, but it can also occur in isolation. We report ...
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A 12.5-year-old girl with diabetes mellitus type 1 presented with stunted growth and an increase in body weight. Also, her blood-sugar levels were difficult to manage. An adrenocorticotropin-(ACTH)-independent form of Cushing's syndrome was diagnosed. During the dexamethasone-suppression test, a paradoxical increase in urinary-free cortisol excretion was observed, which is a clear indication of...
متن کاملPrimary pigmented nodular adrenocortical disease and Cushing's syndrome.
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 syndr...
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ژورنال
عنوان ژورنال: Internal Medicine
سال: 2016
ISSN: 0918-2918,1349-7235
DOI: 10.2169/internalmedicine.55.6605