ArticleJCEM case reports2024
Challenging Diagnostic Workup of a 22-year-old Patient With Primary Pigmented Nodular Adrenocortical Disease.
Article in JCEM case reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of ACTH-independent Cushing syndrome (CS), presenting diagnostic challenges due to its rarity and its difficult clinical differentiation from other causes of CS. Here, we report the case of a 22-year-old female who developed classical symptoms of hypercortisolism including progressive weight gain, moon facies, and various skin manifestations. Despite biochemical screening confirming ACTH-independent CS, imaging modalities including computed tomography and magnetic resonance imaging showed normal adrenal gland morphology, complicating the localization of cortisol hypersecretion. Subsequent nuclear imaging methods were not indicative of ectopic cortisol production until adrenal vein sampling (AVS) conclusively identified the adrenal glands as the only possible source of cortisol hypersecretion. Eventually, bilateral adrenalectomy led to a significant improvement in symptoms. Pathological examination confirmed the diagnosis of PPNAD, and genetic testing revealed a mutation in the
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