Key result
A patient with primary pigmented nodular adrenocortical disease presenting with femoral head necrosis and other symptoms was found to have a heterozygous mutation in the PDE11A gene.
Why the study?
PPNAD is a rare etiology of adrenal-derived, ACTH-independent hypercortisolism, presented alongside a literature review to enhance clinicians' understanding of the condition.
Case Report (n=1)
This case report highlights a rare presentation of PPNAD with osteonecrosis of the femoral head associated with a PDE11A gene mutation.
PDE11A mutation may link to osteonecrosis in PPNAD; hypothesis-generating and requires validation before clinical consideration.
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.
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Zhen et al. (2026) conducted a case report in Primary pigmented nodular adrenocortical disease (PPNAD) (n=1). PDE11A gene mutation was evaluated on Clinical presentation and genetic analysis. A patient with primary pigmented nodular adrenocortical disease presenting with femoral head necrosis and other symptoms was found to have a heterozygous mutation in the PDE11A gene.
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