Vol 69, No 6 (2018)
Original paper
Published online: 2018-09-19
Detection of new potentially pathogenic mutations in two patients with primary pigmented nodular adrenocortical disease (PPNAD) — case reports with literature review
Abstract
Introduction: Primary pigmented nodular adrenocortical disease (PPNAD) is a rare form of ACTH-independent Cushing’s syndrome (CS). Half of patients with PPNAD are sporadic cases and the other half familial.
Material and methods: We present two patients with PPNAD confirmed by genetic analysis.
Results: In both patients there were no abnormal findings on diagnostic imaging of both adrenals and heart. Patients underwent bilateral two-stage adrenalectomy. Histopathological examination confirmed PPNAD. Genetic testing showed the following mutations in the PRKAR1A gene coding for the regulatory subunit type 1A of the protein kinase A enzyme: c.125dupG (patient 1) and c.15dupT (patient 2). Both these defects lead to inactivation of the PRKAR1A protein and are consequently causative of PPNAD in these patients.
Conclusions: The novel mutations presented in this article are considered to be pathogenic for PPNAD.
Keywords: Cushing’s syndromenodular adrenocortical diseaseCarney complexPPNAD
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