Key result
A novel p.E17X (c.49G>T) mutation in the PRKAR1A gene was identified in a 40-year-old man with Cushing's syndrome due to primary pigmented nodular adrenocortical disease and Carney Complex.
Case Report (n=1)
A novel mutation (p.E17X) in the PRKAR1A gene was identified in a patient with primary pigmented nodular adrenocortical disease and Carney Complex.
May support PRKAR1A testing in Carney Complex; leaves open pathogenicity confirmation and phenotypic correlations.
A 40-year-old man presented with Cushing's syndrome due to bilateral adrenal hyperplasia with multiple nodules. Computed tomography scan results were atypical demonstrating an enlargement of the bilateral adrenal glands harboring multiple small nodules, but the lesion was clinically diagnosed to be primary pigmented nodular adrenocortical disease (PPNAD) based on both endocrinological test results and his family history. We performed bilateral adrenalectomy and confirmed the diagnosis histologically. An analysis of the patient and his mother's genomic DNA identified a novel mutation in the type Iα regulatory subunit of protein kinase A (PRKAR1A) gene; p.E17X (c.49G>T). This confirmed the diagnosis of PPNAD which is associated with Carney Complex.
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Mineo et al. (2016) conducted a case report in Cushing's syndrome, Primary Pigmented Nodular Adrenocortical Disease (PPNAD), Carney Complex (n=1). PRKAR1A p.E17X (c.49G>T) mutation was evaluated. A novel p.E17X (c.49G>T) mutation in the PRKAR1A gene was identified in a 40-year-old man with Cushing's syndrome due to primary pigmented nodular adrenocortical disease and Carney Complex.
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