Key result
Familial ACTH-independent Cushing's syndrome and Carney complex present atypically with macronodules and subsequent Hodgkin lymphoma.
Case Report
This report highlights atypical presentations of Carney complex and PPNAD, including the presence of macronodules and a novel association with Hodgkin lymphoma.
Alerts clinicians to atypical macronodular Carney complex and possible lymphoma risk; leaves open confirmation in larger cohorts.
What is already known on this topic?Primary pigmented nodular adrenocortical disorder (PPNAD), which is rarely seen children while it is the most prevalent cause of ACTHindependent Cushing's syndrome (CS), is typically a micronodular disease and mainly associated with Carney complex (CNC).Carney complex (CNC) is a rare autosomal dominant syndrome, characterized by pigmented lesions of the skin and mucosa, cardiac, cutaneous and other myxomas and multiple endocrine tumors. What this study adds?The findings of reported families provide information for a better understanding of the genetic pathogenesis, diagnosis and clinical management of CNC.Analytic variability in ACTH assays should be kept in mind during interpretation of ACTH levels.One case developed Hodgkin lymphoma five year after adrenalectomy, this association was not previously reported with CNC.Two cases had macronodules contrary to what is generally seen in cases with PPNAD.
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Acinikli et al. (2023) conducted a case report in ACTH-Independent Cushing's Syndrome. Carney complex (CNC) and Primary pigmented nodular adrenocortical disorder (PPNAD) was evaluated. Two families with ACTH-independent Cushing's syndrome and Carney complex presented atypically with macronodules, and one case developed Hodgkin lymphoma five years post-adrenalectomy.
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