Article
Integrated clinical-genetic-pathological analysis expands the phenotypic and molecular spectrum of PPNAD across carney complex and isolated forms.
European journal of endocrinology - 3 Aug 2026
Kuhn Aliny Weber, Lerario Antonio Marcondes, Charchar Helaine Laiz, Mariani Beatriz Marinho de Paula, Vaduva Patricia, Nishi Mirian Yumie, Ledesma Felipe Lourenco, Srougi Victor, Chambô José Luis, Mendonca Berenice B, Latronico Ana Claudia, Bertherat Jérôme, Almeida Madson Q, Fragoso Maria Candida Barisson Villares
Abstract excerpt
CONTEXT: Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of ACTH-independent Cushing syndrome (CS), occurring in isolation or as part of Carney complex (CNC); its phenotypic and molecular spectra remain incompletely defined. OBJECTIVE: To characterize phenotypic variability, genotype-phenotype correlations, and molecular findings in PPNAD through integrated clinical, histopathological,...
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