Author

P. Vaduva

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Case report Open access Aug 2026

The identification of a PRKACA duplication at 19p13.12 in a female with PPNAD and thyroid carcinoma after a 20-year diagnostic journey

Rare pathogenic variants affecting components of the evolutionary conserved cAMP/protein kinase A (PKA) signalling pathway are implicated in a spectrum of adrenocortical disorders. Germline inactivating PRKAR1A variants leading to constitutive PKA activation, underlie primary pigmented nodular adrenocortical disease (P...

M. Broekema, Florian Violon, P. Vaduva et al. · Familial Cancer · 0 citations

Review Aug 2026

Integrated Clinical-Genetic-Pathological Analysis Expands the Phenotypic and Molecular Spectrum of PPNAD Across Carney Complex and Isolated Forms.

In this referral cohort, PPNAD/CNC displays marked phenotypic variability, incomplete penetrance with subclinical cortisol excess, and diverse molecular mechanisms, including novel germline variants and somatic second hits.

A. Kuhn, A. Lerario, H. Charchar et al. · European Journal of Endocrin... · 0 citations