Primary Pigmented Nodular Adrenocortical Disease Presenting as Osteonecrosis of the Femoral Head: A Case Report

Primary pigmented nodular adrenocortical disease (PPNAD) represents a rare etiology of adrenal-derived, adrenocorticotropic hormone (ACTH)-independent hypercortisolism. Its pathogenesis is primarily attributed to inactivating mutations in the PRKAR1A, PDE11A, or PD88 genes, as well as amplifications of PRKACA and triploid mutations of PRKACB. This report presents the case of a patient with PPNAD, who exhibited symptoms including hypertension, femoral head necrosis, anxiety and depression, nephrolithiasis, and short stature. Genetic analysis revealed a heterozygous mutation in the PDE11A gene (NM_016953.4: c.2032G>A; Ala678Thr). Additionally, a review of recent literature was conducted to enhance clinicians' understanding of this condition.